Materiały źródłowe

• #1 Nail-Patella Syndrome: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/nail-patella-syndrome

  Nail-patella syndrome is something a person has for life. Theres no cure. But treatments can help manage symptoms and lower the risk of complications. […] Possible treatments include: Physical therapy to help with movement, Medications to manage musculoskeletal pain, blood pressure or pressure in their eyes, Surgery to manage bone abnormalities, glaucoma or severe kidney disease (including kidney transplantation). […] Your childs providers will explain the benefits and risks of each treatment. Managing a complex genetic syndrome in your child might feel overwhelming. Dont hesitate to ask questions or share concerns so you can feel confident in your childs treatment plan.

• #2 Nail-Patella Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559190/

  Nail-patella syndrome (NPS) is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities. […] This activity discusses its genetic basis and history, various clinical manifestations, multiple treatment strategies, and the role of the interprofessional team in diagnosis and management. […] Review the medical and surgical treatment options for patients with nail-patella syndrome. […] Treatment of renal involvement is focused on slowing the progression of proteinuria by achieving blockage of the renin-angiotensin-aldosterone system (RAAS). […] Two classes of drugs that target the RAAS and are well studied in patients with genetic or acquired proteinuria are angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs).

• #3 Azthena logo with the word Azthena

  https://www.news-medical.net/health/How-to-Manage-Nail-Patella-Syndrome.aspx

  This is a genetic disorder that is likely to affect the nails, kneecaps, elbows, kidneys, and eyes of the individual. […] Since Nail Patella Syndrome (NPS) is caused by a mutant gene which affects the embryonic development, it has no cure. […] There is no cure for NPS once diagnosed; It comes down to symptom management. […] The primary solution to orthopedic problems such as bone growth abnormalities would be corrective surgery. […] Physiotherapy and bracing are often used to alleviate physical discomfort and pain. […] Glaucoma is treated, as it would be for the normal population, with eye drops, and if required, a procedure is carried out to reduce ocular pressure due to fluid accumulation. […] Medication can help control more benign kidney related problems. […] If required doctors may advice dialysis for severe cases of nephropathy. […] Due to the possible presence of kidney disease, blood pressure will need to be closely monitored throughout pregnancy of an individual suffering from NPS. […] Bone density tests should be suggested in order to keep track of the individuals likelihood of developing osteoporosis.

• #4 Nail-patella syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/nail-patella-syndrome?lang=us

  Multidisciplinary teams are required to treat patients with nail-patella syndrome, these include orthopedics, pediatricians, and for other complications of the condition: nephrologists, ophthalmologists, general practitioners, dieticians, and physiotherapists, etc.

• #5 Nail patella syndrome: Causes, symptoms, treatment, inheritance

  https://www.medicalnewstoday.com/articles/nail-patella-syndrome

  Treatments will depend on the location and severity of the symptoms. The condition often requires lifelong maintenance and monitoring. […] Treatment will depend on a persons symptoms and typically involves providing supportive care. […] In many cases, treatment will involve coordination among several specialists and other healthcare professionals. Treatment teams for the condition can vary but may include: pediatricians, surgeons, dietitians, orthopedists physicians who diagnose and treat bone irregularities, ophthalmologists eye specialists, nephrologists specialists who diagnose and treat kidney disorders, physical therapists. […] Treatments may include: eye drops and/or eye surgery, surgical restructuring of joints, joint replacement, assistive devices, medications, physical therapy, special social supports, medications, such as angiotensin converting enzyme (ACE) inhibitors and other blood pressure medications.

• #6 Nail-Patella Syndrome

  https://www.patientcareonline.com/view/nail-patella-syndrome

  Ideally, treatment of patients with nail-patella syndrome involves a multidisciplinary approach, including nephrology, orthopedics, rheumatology, and psychology. Close management and surveillance are essential to prevent and treat renal complications. The prognosis is usually benign, although end-stage renal disease requiring renal transplantation develops in about 30% of patients at a mean age of 33 years. […] The diagnosis of nail-patella syndrome is based on clinical manifestations, which vary in frequency and severity and between family members.

• #7 Nail patella syndrome

  https://www.nhs.uk/conditions/nail-patella-syndrome/

  There’s no cure for nail patella syndrome, but treatments are available to help manage the symptoms. […] If your kneecaps are easily dislocated and painful, painkillers, physiotherapy, splinting and bracing may help. […] Some people may need corrective surgery for problems with the bones and joints. This should be carried out after an MRI scan by a surgeon who understands the condition. […] Urine tests should be carried out at birth to check for kidney problems. High levels of protein in the urine may need to be treated with medication. […] If your kidneys aren’t working properly, you may need dialysis, where a machine is used to replicate many of the kidney’s functions. […] If you have severe kidney disease, you may need a kidney transplant. […] Treatment for glaucoma may involve using eye drops or having a procedure to reduce the pressure inside the eye. […] An assessment of bone density is recommended for young adults to check for osteoporosis.

• #8 Nail-Patella Syndrome: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/nail-patella-syndrome

  Nail-patella syndrome is something a person has for life. Theres no cure. But treatments can help manage symptoms and lower the risk of complications. […] Possible treatments include: Physical therapy to help with movement, Medications to manage musculoskeletal pain, blood pressure or pressure in their eyes, Surgery to manage bone abnormalities, glaucoma or severe kidney disease (including kidney transplantation). […] Your childs providers will explain the benefits and risks of each treatment. Managing a complex genetic syndrome in your child might feel overwhelming. Dont hesitate to ask questions or share concerns so you can feel confident in your childs treatment plan.

• #9 Nail-Patella Syndrome: Symptoms, Diagnosis & Treatment Options – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/nail-patella-syndrome-symptoms-diagnosis-treatment-options/

  Nail-patella syndrome is a genetic disorder that primarily affects the nails, bones, and other organs. […] While there is no cure, many individuals with NPS can lead healthy, fulfilling lives with appropriate care. […] In Nail-Patella Syndrome, corticosteroids may be prescribed for severe joint inflammation or kidney involvement. […] Physical therapy can enhance joint function, particularly in the knees and elbows, and help prevent muscle weakness and joint contractures. […] Surgery may be necessary to correct severe joint deformities, relieve pain, or address complications such as dislocated kneecaps or kidney issues. […] Seek medical help if symptoms worsen, such as increased joint pain, difficulty moving, or signs of kidney problems like swelling or high blood pressure. […] By working closely with your healthcare provider and following a comprehensive treatment plan, you can lead a fulfilling life despite the challenges of this condition.

• #10 NAIL-PATELLA SYNDROME: DIAGNOSIS AND MANAGEMENT IN A CHIROPRACTIC SETTING– A CASE REPORT | Published in Journal of Contemporary Chiropractic

  https://journal.parker.edu/article/78042-nail-patella-syndrome-diagnosis-and-management-in-a-chiropractic-setting-a-case-report

  Objective: To describe the conservative management of a 6.5-year-old with chronic knee pain. […] Intervention and Outcome: Home exercise recommendation to address continued biomechanical change in the knees was initiated. He responded to chiropractic intervention and age-appropriate exercises, with a reported decrease in pain and dysfunction. […] Initial Therapeutic Intervention: With the knowledge of the weakness of the vastus medialis muscle and joint pain involved here, our focus was to recommend physiotherapy to address strengthening the quadriceps muscle. […] He received weekly chiropractic adjustments. […] By his 3rd visit, his range of motion improved and his pain resolved. […] Follow Up Visits Assessments: Advice was given to his parents to have regular check-ups for glaucoma and kidney function. […] Early detection from a portal-of-entry physician was a valuable tool in helping a patient and his family manage NPS.

• #11 Management of patellar problems in skeletally mature patients with nail-patella syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/26872454/

  Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. […] In our series, milder forms of the disease were treated with non-operative measures, but the majority of our patients required surgery including medial patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral and total knee arthroplasty. At midterm follow-up, most patients had good results. […] Knee surgeons should be familiar with the spectrum of clinical presentation and the range of treatment options available in order to provide optimum treatment for patients with this disorder.

• #12 Nail patella syndrome – Cause, Symptoms, Treatment, Exercise

  https://www.samarpanphysioclinic.com/nail-patella-syndrome/

  There is no cure for nail-patella syndrome, but treatments are available to help manage the symptoms. […] Symptomatic Medical treatment with Physical therapy treatment/exercise may help some extent. […] If the kneecaps are easily dislocated and painful, painkillers, physiotherapy, splinting, and bracing can help. […] Some people can require corrective surgery for problems with the bones and joints. […] According to the American Academy of Orthopaedic Surgeons, performing lower body stretching exercises can help to increase the range of motion and flexibility in the knee joint. […] According to the American Academy of Orthopaedic Surgeons, a person may help to decrease the stress on the knee joint by regularly working the muscles around the knee. […] Once a person had built up strength in the knees, person can want to consider adding low-impact exercises to the routine.

• #13

  https://99nicu.org/forums/topic/305-nail-patella-syndrome/

  Before treatment such as surgery or intensive physiotherapy is considered for orthopaedic abnormalities, it is recommended that information on possible abnormal anatomy of both bone and soft tissue is acquired by magnetic resonance imaging (MRI). Genetic counselling should be offered to all patients with NPS.

• #14 Nail-Patella syndrome | Contact

  https://contact.org.uk/conditions/nail-patella-syndrome/

  Management of NPS involves treating the symptoms of the condition. Joint problems in NPS may be treated with physiotherapy or surgery where appropriate. Because the joint anatomy is often abnormal in NPS, magnetic resonance imaging (MRI) scanning may be helpful prior to any surgery. Glaucoma can be treated with medication or surgery and kidney failure can be treated with dialysis or kidney transplantation.

• #15 Nail-Patella Syndrome: Clinical Clues for Making the Diagnosis | MDedge

  https://mdedge.com/cutis/article/158021/hair-nails/nail-patella-syndrome-clinical-clues-making-diagnosis

  Given the variability in severity of joint problems and the unpredictable anatomy of the joints, magnetic resonance imaging of the joints is recommended prior to orthopedic intervention. […] Most importantly, physicians should recognize this genodermatosis to implement periodic screenings for renal disease, as up to 40% of NPS patients develop kidney failure. […] Annual blood pressure measurements, urinalysis, and measurement of the protein to creatinine ratio in the urine are recommended. […] For patients with end-stage renal failure, renal transplantation results in cure of nephropathy and may even result in nail regrowth.

• #16 Nail Patella Syndrome Treatment Strategies – Paley Institute

  https://paleyinstitute.org/nail-patella-syndrome-treatment-strategies/

  At the Paley Institute, we treat the orthopedic manifestations of Nail-Patella Syndrome, namely deformities and deficiencies in the knee, elbow, hip, and ankle joints. The primary complaint of those with Nail Patella Syndrome is the deformity of the knee, specifically the dislocation of the patella. To correct this, Dr. Paley will first reduce the tibia on the fibula with application of an external fixator. A circular external fixator (Ilizarov or TSF) is preferred since it can perform three-dimensional correction. […] After reduction of the tibia, Dr. Paley will perform the second stage surgery: an intra-articular osteotomy (surgical bone cut) to elevate the tibial plateau. A bone graft is inserted as well as an internal plate to hold the alignment in place. This will stabilize the knee joint. Patients often have significant muscle contractures of the knees as well, which can be corrected with muscle releases. Gradual distraction with the external fixator will also slowly correct the contractures. The external fixator can also be used to lengthen the tibia and / or femur to correct any limb length discrepancy. A similar approach can be performed on other joints that may be deficient due to Nail Patella Syndrome. The treatment strategy will follow these steps: Gradual distraction of the affected joint with external fixator, Osteotomy to correct and realign the joint, Soft tissue releases to correct contractures, Limb lengthening to correct limb length discrepancies. […] At the Paley Institute, we have successfully performed limb deformity correction and limb lengthening on patients with Nail Patella Syndrome, with excellent results.

• #17 Management of patellar problems in skeletally mature patients with nail-patella syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/26872454/

  Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. […] In our series, milder forms of the disease were treated with non-operative measures, but the majority of our patients required surgery including medial patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral and total knee arthroplasty. At midterm follow-up, most patients had good results. […] Knee surgeons should be familiar with the spectrum of clinical presentation and the range of treatment options available in order to provide optimum treatment for patients with this disorder.

• #18 Patient With Nail Patella Syndrome | IMCRJ

  https://www.dovepress.com/total-knee-arthroplasty-for-osteoarthritis-in-a-patient-with-nail-pate-peer-reviewed-fulltext-article-IMCRJ

  Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population and there is no defined treatment algorithm for adult patients. […] Although there is no cure for NPS, several treatments have been useful in the symptomatic treatment of changes in the knees. […] Total knee arthroplasty was performed with a standard NEXGEN prosthesis in February 2014. […] Although there is no cure for NPS, several options have been useful in treating its symptoms. […] Total knee arthroplasty, although rarely described in the literature for treating these patients, appears to be indicated in selected cases, where there is severe osteoarthritis, even if the patella is absent, as in the case here described. […] The treatment was effective, and the patient improved not only regarding quality of life but also pain and joint mobility. […] The authors wish to highlight the importance of a multidisciplinary approach to the patient where communication between the GP, orthopedics, radiology and physiotherapy is needed.

• #19 Nail Patella Syndrome Treatment Strategies – Paley Institute

  https://paleyinstitute.org/nail-patella-syndrome-treatment-strategies/

  At the Paley Institute, we treat the orthopedic manifestations of Nail-Patella Syndrome, namely deformities and deficiencies in the knee, elbow, hip, and ankle joints. The primary complaint of those with Nail Patella Syndrome is the deformity of the knee, specifically the dislocation of the patella. To correct this, Dr. Paley will first reduce the tibia on the fibula with application of an external fixator. A circular external fixator (Ilizarov or TSF) is preferred since it can perform three-dimensional correction. […] After reduction of the tibia, Dr. Paley will perform the second stage surgery: an intra-articular osteotomy (surgical bone cut) to elevate the tibial plateau. A bone graft is inserted as well as an internal plate to hold the alignment in place. This will stabilize the knee joint. Patients often have significant muscle contractures of the knees as well, which can be corrected with muscle releases. Gradual distraction with the external fixator will also slowly correct the contractures. The external fixator can also be used to lengthen the tibia and / or femur to correct any limb length discrepancy. A similar approach can be performed on other joints that may be deficient due to Nail Patella Syndrome. The treatment strategy will follow these steps: Gradual distraction of the affected joint with external fixator, Osteotomy to correct and realign the joint, Soft tissue releases to correct contractures, Limb lengthening to correct limb length discrepancies. […] At the Paley Institute, we have successfully performed limb deformity correction and limb lengthening on patients with Nail Patella Syndrome, with excellent results.

• #20 Nail-Patella Syndrome – Paley

  https://paleyeurope.com/en/problems/nail-patella-syndrome/

  At the Paley Institute, we treat the orthopedic manifestations of Nail-Patella Syndrome, namely deformities and deficiencies in the knee, elbow, hip, and ankle joints. […] The primary complaint of those with Nail Patella Syndrome is the deformity of the knee, specifically the dislocation of the patella. To correct this, Dr. Paley will first reduce the tibia on the fibula with application of an external fixator. A circular external fixator (Ilizarov or TSF) is preferred since it can perform three-dimensional correction. […] A similar approach can be performed on other joints that may be deficient due to Nail Patella Syndrome. The treatment strategy will follow these steps: Gradual distraction of the affected joint with external fixator, Osteotomy to correct and realign the joint, Soft tissue releases to correct contractures, Limb lengthening to correct limb length discrepancies. […] At the Paley Institute, we have successfully performed limb deformity correction and limb lengthening on patients with Nail Patella Syndrome, with excellent results.

• #21 Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report

  https://www.spandidos-publications.com/10.3892/etm.2016.3180

  Hereditary onycho-osteodysplasia, also known as nail-patella syndrome (NPS), is a rare genetic disorder that is primarily characterized by poorly developed nails and patella. Patients with NPS frequently suffer from patellar instability that requires surgical management. […] The patient underwent surgical intervention using medial patellofemoral ligament (MPFL) reconstruction with a gracilis tendon autograft looped through two transverse 3.2mm drill holes in the patella and fixed at the natural MPFL insertion site on the medial femoral condyle with an interference screw. The surgery resulted in stabilization of the patella in the femoral trochlea and the patient did not have any subsequent dislocations or subluxations. […] This case indicates that MPFL reconstruction in patients with patellar dislocation secondary to NPS can successfully restore normal patellar tracking and result in good range of movement and functional activity.

• #22 Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report

  https://www.spandidos-publications.com/10.3892/etm.2016.3180

  Various surgical options, individually and in combination, have been described for the management of the recurrent patellar dislocation in such cases. […] The present case indicates that reconstruction using gracilis tendon is a safe and effective method and can be used in NPS cases caused by an MPFL tear.

• #23 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patellofemoral pain and patellar dislocation are common symptoms of NPS, which may be initially treated with conservative measures. Multiple surgical techniques and approaches have been described for the correction of patellar instability. Interestingly, one such surgical approach aims to resect a synovial band or plicae, which can contribute to patellar dislocation. Surgical removal of this synovial band has been reported to improve symptoms, but long-term outcomes of the procedure require further investigation. One survey in the Netherlands showed the majority of patients with NPS with knee symptoms were at least satisfied with their surgery, but the reported rate of patellar instability was the same between patients who underwent surgery and those who did not. […] No specific management guidelines have been proposed by any large medical organization. Sweeney et al. put forth recommendations that aim to maintain quality of life, provide genetic counseling for patients and their families, and provide screening measures to prevent NPS complications associated with elevated morbidity and mortality such as glaucoma and renal failure.

• #24 Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology | SICOT-JMendeley

  https://www.sicot-j.org/articles/sicotj/full_html/2016/01/sicotj150179/sicotj150179.html

  Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. […] Successful treatment via early resection of the septum with sustained good outcome is presented. […] In patients with nail-patella-syndrome and a subluxated or dislocated patella we recommend diagnostics with magnetic-resonance-imaging and early surgical treatment via resection of the trochlear septum and soft-tissue-balancing of the patella. […] We recommend early arthroscopic septum resection before school enrollment of the patient. If necessary, proximal realignment of the patella should be performed simultaneously. […] After complete septum resection in combination with proximal patella realignment in both knees of a six-year-old boy with NPS, the patient had a very good outcome and stayed active through adolescence over a follow-up of over 10 years. […] In patients with nail-patella-syndrome and a subluxated or luxated patella, we recommend diagnostics with MRI and early surgical treatment via resection of the sagittal septum and additional soft tissue balancing of the patella, if needed.

• #25 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patellofemoral pain and patellar dislocation are common symptoms of NPS, which may be initially treated with conservative measures. Multiple surgical techniques and approaches have been described for the correction of patellar instability. Interestingly, one such surgical approach aims to resect a synovial band or plicae, which can contribute to patellar dislocation. Surgical removal of this synovial band has been reported to improve symptoms, but long-term outcomes of the procedure require further investigation. One survey in the Netherlands showed the majority of patients with NPS with knee symptoms were at least satisfied with their surgery, but the reported rate of patellar instability was the same between patients who underwent surgery and those who did not. […] No specific management guidelines have been proposed by any large medical organization. Sweeney et al. put forth recommendations that aim to maintain quality of life, provide genetic counseling for patients and their families, and provide screening measures to prevent NPS complications associated with elevated morbidity and mortality such as glaucoma and renal failure.

• #26 Nail Patella Syndrome | International Center for Limb Lengthening

  https://www.limblength.org/conditions/nail-patella-syndrome/

  At the International Center for Limb Lengthening, our treatment of the disease mainly addresses the small or missing patella and issues with any other joints. This is primarily done through a modification of the SUPERknee procedure designed for congenital instability of the patella. Deformity correction of any other joints primarily consists of making an osteotomy and applying an external fixator to very gradually pull apart the affected joint, while the pins hold the bones in place. Contractures (shortening of the joint and muscle) are then addressed through soft tissue releases. Any resulting limb length discrepancies are corrected with internal or external limb lengthening treatment.

• #27 Nail-Patella Syndrome – Paley

  https://paleyeurope.com/en/problems/nail-patella-syndrome/

  At the Paley Institute, we treat the orthopedic manifestations of Nail-Patella Syndrome, namely deformities and deficiencies in the knee, elbow, hip, and ankle joints. […] The primary complaint of those with Nail Patella Syndrome is the deformity of the knee, specifically the dislocation of the patella. To correct this, Dr. Paley will first reduce the tibia on the fibula with application of an external fixator. A circular external fixator (Ilizarov or TSF) is preferred since it can perform three-dimensional correction. […] A similar approach can be performed on other joints that may be deficient due to Nail Patella Syndrome. The treatment strategy will follow these steps: Gradual distraction of the affected joint with external fixator, Osteotomy to correct and realign the joint, Soft tissue releases to correct contractures, Limb lengthening to correct limb length discrepancies. […] At the Paley Institute, we have successfully performed limb deformity correction and limb lengthening on patients with Nail Patella Syndrome, with excellent results.

• #28

  https://journals.lww.com/jpo-b/abstract/1998/01000/treatment_of_antecubital_pterygium_in_the.4.aspx

  Antecubital pterygium is rare in the nail-patella syndrome but common in the multiple pterygium syndrome and aplasia of the trochlea. […] We describe the poor functional results due to rapid recurrence of the flexion contracture treated with the Ilizarov method for an antecubital pterygium in the nail-patella syndrome.

• #29

  https://journals.lww.com/pedorthopaedics/abstract/1983/07000/long_term_follow_up_of_the_treatment_of_a_family.16.aspx

  Patients with nail-patella syndrome have deformities of the elbows and knees which can cause bothersome symptoms requiring treatment. […] We have found in a small series of four patients that quadricepsplasties have been uniformly successful in treating recurrent subluxation or dislocation of the patella at 10-year follow-up. […] Radial head resection has been effective in relieving minor amounts of pain and eliminating the bump caused by the posteriorly dislocated head.

• #30 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patients with NPS live a normal lifespan, and the reported association with malignancy is favored to be coincidental. Conservative and operative treatment strategies exist for patients with patellofemoral symptoms. Glaucoma and nephropathy are two potentially serious manifestations that are treatable and preventable with screening. In the case of nephropathy, patients with proteinuria or hypertension can be treated with angiotensin-converting enzyme inhibitors and, ultimately, with renal transplantation. […] The most potentially serious complications of NPS are acute open-angle glaucoma and renal failure. The prevalence of glaucoma has been reported at nearly 17% in patients over the age of 40 and is treatable and preventable with screening. Renal failure is the most feared complication of NPS and is the primary complication affecting mortality. The progression to renal failure in patients with NPS nephropathy can occur rapidly or after many years for reasons that are not fully understood. Like glaucoma, nephropathy is treatable and more importantly preventable with screening.

• #31 Nail patella syndrome

  https://www.oatext.com/nail-patella-syndrome.php

  Nail Patella Syndrome is an autosomal dominant disease evidenced by hypoplasia or absence of patella, nail dysplasia, limited elbow motion, and presence of iliac horns. […] Kidney failure may appear to happen rapidly or after many years of asymptomatic proteinuria. For patients with stage V of CKD as a result of NPS, renal transplantation has resulted favorably. No ultrastructural abnormalities are reported and no cases of disease recurrence have been documented. […] Patients with a history or family history of NPS should be examined for kidney disease annually by the primary care. This includes blood pressure monitoring and urinalysis. An ophthalmologic evaluation may also be considered in cases of NPS including optic disc, visual field and intraocular pressure evaluation in order to detect glaucoma. If abnormalities are detected, the patient should be referred to a nephrologist and ophthalmologist for evaluation and follow up. Genetic counseling, when available, should be offered to all patients with NPS.

• #32

  https://99nicu.org/forums/topic/305-nail-patella-syndrome/

  The NailPatella Syndrome (Fong Syndrome) is inherited as autosomal dominant (AD). Is caused by a defect in the LMX1B gene that is characterized by hypoplastic patella, nail dystrophy with triangular lunula, posterior iliac horns, pigmentation of the margin of the pupils (Lester iris), and glomerulonephropathy. Triangular nail lunulae is the pathognomonic sign of this syndrome. […] Recommendations for the care of patients with NPS Annual screening for renal disease from birth. This should include blood pressure and urine analysis. A urine albumin:creatinine ratio on a first morning urine is preferable to urine analysis dipsticks as it is a more sensitive measure and corrects for concentration of the urine. If any abnormalities are detected the patient should then be referred to a renal physician for further investigation and follow up.

• #33 Nail patella syndrome

  https://www.oatext.com/nail-patella-syndrome.php

  Nail Patella Syndrome is an autosomal dominant disease evidenced by hypoplasia or absence of patella, nail dysplasia, limited elbow motion, and presence of iliac horns. […] Kidney failure may appear to happen rapidly or after many years of asymptomatic proteinuria. For patients with stage V of CKD as a result of NPS, renal transplantation has resulted favorably. No ultrastructural abnormalities are reported and no cases of disease recurrence have been documented. […] Patients with a history or family history of NPS should be examined for kidney disease annually by the primary care. This includes blood pressure monitoring and urinalysis. An ophthalmologic evaluation may also be considered in cases of NPS including optic disc, visual field and intraocular pressure evaluation in order to detect glaucoma. If abnormalities are detected, the patient should be referred to a nephrologist and ophthalmologist for evaluation and follow up. Genetic counseling, when available, should be offered to all patients with NPS.

• #34 Nail-Patella Syndrome (Hereditary osteo-onychodysplasia (HOOD), Fong disease, Turner-Kieser syndrome, Osterreicher-Turner Syndrome) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/nail-patella-syndrome-hereditary-osteo-onychodysplasia-hood-fong-disease-turner-kieser-syndrome-osterreicher-turner-syndrome/

  Interventions will depend on the severity of the different organ systems affected. Renal dysfunction has been treated by transplantation with success. […] From a dermatologic standpoint, the most important interventions would be to secure a diagnosis if not already made, and also to ensure that the patient is followed by appropriate specialists for the more serious systemic aspects of the disorder, including nephrology, opthomology, and orthopedics. […] Patient management should focus on monitoring and prevention of serious complications. […] Refer to a nephrologist for annual screening for renal disease from birth. This should include blood pressure and urine analysis. Checking of a urine albumin:creatinine ratio on a first morning urine is preferable to urine analysis dipsticks since it is more sensitive, and corrects for concentration of the urine. Abnormalities should be referred to a nephrologist for follow-up. ACE inhibitors can be helpful in slowing the progression of proteinuria. Chronic use of nonsteroidal antiinflammatory drugs should be avoided because of their effect on kidney function.

• #35 Nail-Patella Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559190/

  Nail-patella syndrome (NPS) is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities. […] This activity discusses its genetic basis and history, various clinical manifestations, multiple treatment strategies, and the role of the interprofessional team in diagnosis and management. […] Review the medical and surgical treatment options for patients with nail-patella syndrome. […] Treatment of renal involvement is focused on slowing the progression of proteinuria by achieving blockage of the renin-angiotensin-aldosterone system (RAAS). […] Two classes of drugs that target the RAAS and are well studied in patients with genetic or acquired proteinuria are angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs).

• #36 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Treatment of renal involvement is focused on slowing the progression of proteinuria by achieving blockage of the renin-angiotensin-aldosterone system (RAAS). Two classes of drugs that target the RAAS and are well studied in patients with genetic or acquired proteinuria are angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). The literature is lacking robust evidence to support any particular medical treatment, although the authors of a case report involving an infant girl with NPS and proteinuria described complete remission of the patient’s proteinuria using a combination therapy of an ACEi and ARB. Progression to end-stage renal disease is possible, for which the only treatment is renal transplantation. Some authors have suggested a trial of cyclosporin in patients who fail ACEi therapy due to cyclosporin’s ability to reduce proteinuria in patients with Alport syndrome, a genetic disease that also affects the glomerular basement membrane.

• #37 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  The main goal of treatment for kidney issues related to this disease is to slow down its development, specifically focusing on reducing the protein in the urine. To do this, certain drugs are used to target the renin-angiotensin-aldosterone system (RAAS), which plays a key role in controlling blood pressure and the balance of fluids and electrolytes. Two types of drugs can be used for this purpose: angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). However, there isn’t enough data to clearly suggest the best medical treatment. In one specific case, a young girl with kidney disease and high levels of protein in her urine was successfully treated with a combination of ACEi and ARBs. However, it’s important to note that the kidney disease can progress to a severe state requiring a kidney transplant in some cases. Another option that has been suggested for patients who do not respond to ACEi treatment is a drug called cyclosporin, which has been found to reduce protein in the urine in patients with Alport syndrome, another genetic disease affecting the kidneys.

• #38 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Treatment of renal involvement is focused on slowing the progression of proteinuria by achieving blockage of the renin-angiotensin-aldosterone system (RAAS). Two classes of drugs that target the RAAS and are well studied in patients with genetic or acquired proteinuria are angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). The literature is lacking robust evidence to support any particular medical treatment, although the authors of a case report involving an infant girl with NPS and proteinuria described complete remission of the patient’s proteinuria using a combination therapy of an ACEi and ARB. Progression to end-stage renal disease is possible, for which the only treatment is renal transplantation. Some authors have suggested a trial of cyclosporin in patients who fail ACEi therapy due to cyclosporin’s ability to reduce proteinuria in patients with Alport syndrome, a genetic disease that also affects the glomerular basement membrane.

• #39 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Treatment of renal involvement is focused on slowing the progression of proteinuria by achieving blockage of the renin-angiotensin-aldosterone system (RAAS). Two classes of drugs that target the RAAS and are well studied in patients with genetic or acquired proteinuria are angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). The literature is lacking robust evidence to support any particular medical treatment, although the authors of a case report involving an infant girl with NPS and proteinuria described complete remission of the patient’s proteinuria using a combination therapy of an ACEi and ARB. Progression to end-stage renal disease is possible, for which the only treatment is renal transplantation. Some authors have suggested a trial of cyclosporin in patients who fail ACEi therapy due to cyclosporin’s ability to reduce proteinuria in patients with Alport syndrome, a genetic disease that also affects the glomerular basement membrane.

• #40 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  The main goal of treatment for kidney issues related to this disease is to slow down its development, specifically focusing on reducing the protein in the urine. To do this, certain drugs are used to target the renin-angiotensin-aldosterone system (RAAS), which plays a key role in controlling blood pressure and the balance of fluids and electrolytes. Two types of drugs can be used for this purpose: angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). However, there isn’t enough data to clearly suggest the best medical treatment. In one specific case, a young girl with kidney disease and high levels of protein in her urine was successfully treated with a combination of ACEi and ARBs. However, it’s important to note that the kidney disease can progress to a severe state requiring a kidney transplant in some cases. Another option that has been suggested for patients who do not respond to ACEi treatment is a drug called cyclosporin, which has been found to reduce protein in the urine in patients with Alport syndrome, another genetic disease affecting the kidneys.

• #41 Nail-Patella Syndrome (Hereditary osteo-onychodysplasia (HOOD), Fong disease, Turner-Kieser syndrome, Osterreicher-Turner Syndrome) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/nail-patella-syndrome-hereditary-osteo-onychodysplasia-hood-fong-disease-turner-kieser-syndrome-osterreicher-turner-syndrome/

  Interventions will depend on the severity of the different organ systems affected. Renal dysfunction has been treated by transplantation with success. […] From a dermatologic standpoint, the most important interventions would be to secure a diagnosis if not already made, and also to ensure that the patient is followed by appropriate specialists for the more serious systemic aspects of the disorder, including nephrology, opthomology, and orthopedics. […] Patient management should focus on monitoring and prevention of serious complications. […] Refer to a nephrologist for annual screening for renal disease from birth. This should include blood pressure and urine analysis. Checking of a urine albumin:creatinine ratio on a first morning urine is preferable to urine analysis dipsticks since it is more sensitive, and corrects for concentration of the urine. Abnormalities should be referred to a nephrologist for follow-up. ACE inhibitors can be helpful in slowing the progression of proteinuria. Chronic use of nonsteroidal antiinflammatory drugs should be avoided because of their effect on kidney function.

• #42 Nail-Patella Syndrome

  https://www.patientcareonline.com/view/nail-patella-syndrome

  Ideally, treatment of patients with nail-patella syndrome involves a multidisciplinary approach, including nephrology, orthopedics, rheumatology, and psychology. Close management and surveillance are essential to prevent and treat renal complications. The prognosis is usually benign, although end-stage renal disease requiring renal transplantation develops in about 30% of patients at a mean age of 33 years. […] The diagnosis of nail-patella syndrome is based on clinical manifestations, which vary in frequency and severity and between family members.

• #43 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Treatment of renal involvement is focused on slowing the progression of proteinuria by achieving blockage of the renin-angiotensin-aldosterone system (RAAS). Two classes of drugs that target the RAAS and are well studied in patients with genetic or acquired proteinuria are angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). The literature is lacking robust evidence to support any particular medical treatment, although the authors of a case report involving an infant girl with NPS and proteinuria described complete remission of the patient’s proteinuria using a combination therapy of an ACEi and ARB. Progression to end-stage renal disease is possible, for which the only treatment is renal transplantation. Some authors have suggested a trial of cyclosporin in patients who fail ACEi therapy due to cyclosporin’s ability to reduce proteinuria in patients with Alport syndrome, a genetic disease that also affects the glomerular basement membrane.

• #44 Nail patella syndrome

  https://www.nhs.uk/conditions/nail-patella-syndrome/

  There’s no cure for nail patella syndrome, but treatments are available to help manage the symptoms. […] If your kneecaps are easily dislocated and painful, painkillers, physiotherapy, splinting and bracing may help. […] Some people may need corrective surgery for problems with the bones and joints. This should be carried out after an MRI scan by a surgeon who understands the condition. […] Urine tests should be carried out at birth to check for kidney problems. High levels of protein in the urine may need to be treated with medication. […] If your kidneys aren’t working properly, you may need dialysis, where a machine is used to replicate many of the kidney’s functions. […] If you have severe kidney disease, you may need a kidney transplant. […] Treatment for glaucoma may involve using eye drops or having a procedure to reduce the pressure inside the eye. […] An assessment of bone density is recommended for young adults to check for osteoporosis.

• #45 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patients with NPS live a normal lifespan, and the reported association with malignancy is favored to be coincidental. Conservative and operative treatment strategies exist for patients with patellofemoral symptoms. Glaucoma and nephropathy are two potentially serious manifestations that are treatable and preventable with screening. In the case of nephropathy, patients with proteinuria or hypertension can be treated with angiotensin-converting enzyme inhibitors and, ultimately, with renal transplantation. […] The most potentially serious complications of NPS are acute open-angle glaucoma and renal failure. The prevalence of glaucoma has been reported at nearly 17% in patients over the age of 40 and is treatable and preventable with screening. Renal failure is the most feared complication of NPS and is the primary complication affecting mortality. The progression to renal failure in patients with NPS nephropathy can occur rapidly or after many years for reasons that are not fully understood. Like glaucoma, nephropathy is treatable and more importantly preventable with screening.

• #46 Nail patella syndrome

  https://www.oatext.com/nail-patella-syndrome.php

  Nail Patella Syndrome is an autosomal dominant disease evidenced by hypoplasia or absence of patella, nail dysplasia, limited elbow motion, and presence of iliac horns. […] Kidney failure may appear to happen rapidly or after many years of asymptomatic proteinuria. For patients with stage V of CKD as a result of NPS, renal transplantation has resulted favorably. No ultrastructural abnormalities are reported and no cases of disease recurrence have been documented. […] Patients with a history or family history of NPS should be examined for kidney disease annually by the primary care. This includes blood pressure monitoring and urinalysis. An ophthalmologic evaluation may also be considered in cases of NPS including optic disc, visual field and intraocular pressure evaluation in order to detect glaucoma. If abnormalities are detected, the patient should be referred to a nephrologist and ophthalmologist for evaluation and follow up. Genetic counseling, when available, should be offered to all patients with NPS.

• #47 Nail-Patella Syndrome – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/nail-patella-syndrome

  Nail-patella syndrome is a rare inherited disorder of mesenchymal tissue characterized by abnormalities of bones, joints, fingernails and toenails, and kidneys. Diagnosis is clinical. There is no specific treatment, but angiotensin-converting enzyme inhibitors may be given for proteinuria and hypertension, and kidney transplantation is sometimes done. […] There is no specific treatment for nail-patella syndrome, but proteinuria and hypertension can be treated with ACE inhibitors. […] When indicated, kidney transplantation has been successful without evidence of recurrent disease in the graft.

• #48 Nail-Patella Syndrome: Clinical Clues for Making the Diagnosis | MDedge

  https://mdedge.com/cutis/article/158021/hair-nails/nail-patella-syndrome-clinical-clues-making-diagnosis

  Given the variability in severity of joint problems and the unpredictable anatomy of the joints, magnetic resonance imaging of the joints is recommended prior to orthopedic intervention. […] Most importantly, physicians should recognize this genodermatosis to implement periodic screenings for renal disease, as up to 40% of NPS patients develop kidney failure. […] Annual blood pressure measurements, urinalysis, and measurement of the protein to creatinine ratio in the urine are recommended. […] For patients with end-stage renal failure, renal transplantation results in cure of nephropathy and may even result in nail regrowth.

• #49 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patients with NPS live a normal lifespan, and the reported association with malignancy is favored to be coincidental. Conservative and operative treatment strategies exist for patients with patellofemoral symptoms. Glaucoma and nephropathy are two potentially serious manifestations that are treatable and preventable with screening. In the case of nephropathy, patients with proteinuria or hypertension can be treated with angiotensin-converting enzyme inhibitors and, ultimately, with renal transplantation. […] The most potentially serious complications of NPS are acute open-angle glaucoma and renal failure. The prevalence of glaucoma has been reported at nearly 17% in patients over the age of 40 and is treatable and preventable with screening. Renal failure is the most feared complication of NPS and is the primary complication affecting mortality. The progression to renal failure in patients with NPS nephropathy can occur rapidly or after many years for reasons that are not fully understood. Like glaucoma, nephropathy is treatable and more importantly preventable with screening.

• #50 Nail-Patella Syndrome: Clinical Clues for Making the Diagnosis | MDedge

  https://mdedge.com/cutis/article/158021/hair-nails/nail-patella-syndrome-clinical-clues-making-diagnosis

  Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic triad of fingernail dysplasia, patellar absence/hypoplasia, and presence of iliac horns. […] A detailed awareness of the classic findings of NPS can facilitate its early recognition and enable appropriate treatment and long-term screening. […] Early intervention and a multidisciplinary approach to care can improve morbidity and mortality in patients with NPS. […] Our case highlights the importance of recognizing this rare condition to provide a multidisciplinary approach to care that addresses all aspects of LMX1B-associated disease in affected individuals. […] Nail-patella syndrome patients should undergo thorough ophthalmologic examinations every 2 years, including measurement of intraocular pressure, examination of the optic disc, and assessment of visual fields.

• #51 Nail-Patella Syndrome (Hereditary osteo-onychodysplasia (HOOD), Fong disease, Turner-Kieser syndrome, Osterreicher-Turner Syndrome) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/nail-patella-syndrome-hereditary-osteo-onychodysplasia-hood-fong-disease-turner-kieser-syndrome-osterreicher-turner-syndrome/

  Refer to opthalmology for routine screening for glaucoma, including measurement of intraocular pressure, examination of the optic disc, and assessment of visual fields. Normal pressure glaucoma may be present. This screening should be initiated as soon as a child is able to cooperate with the examination. […] Before orthopedic abnormalities are treated, evaluation of the bone and soft tissue should be undertaken by magnetic resonance imaging (MRI). […] Dental examination should be conducted at least every 6 months. […] Genetic counseling should be offered.

• #52 Nail-Patella Syndrome (NPS) | Kellogg Eye Center | Michigan Medicine

  https://www.umkelloggeye.org/conditions-treatments/nail-patella-syndrome

  The treatment for NPS and glaucoma depends upon the severity of each case. In general, glaucoma cannot be cured, but it can be controlled. Glaucoma medications (either eye drops or pills), laser procedures, and surgical operations are used to slow further damage from occurring. […] With any type of glaucoma, periodic examinations are very important to prevent vision loss. Because glaucoma can worsen without your being aware of it, treatment may need to be changed over time.

• #53 Nail patella syndrome

  https://www.nhs.uk/conditions/nail-patella-syndrome/

  There’s no cure for nail patella syndrome, but treatments are available to help manage the symptoms. […] If your kneecaps are easily dislocated and painful, painkillers, physiotherapy, splinting and bracing may help. […] Some people may need corrective surgery for problems with the bones and joints. This should be carried out after an MRI scan by a surgeon who understands the condition. […] Urine tests should be carried out at birth to check for kidney problems. High levels of protein in the urine may need to be treated with medication. […] If your kidneys aren’t working properly, you may need dialysis, where a machine is used to replicate many of the kidney’s functions. […] If you have severe kidney disease, you may need a kidney transplant. […] Treatment for glaucoma may involve using eye drops or having a procedure to reduce the pressure inside the eye. […] An assessment of bone density is recommended for young adults to check for osteoporosis.

• #54 Azthena logo with the word Azthena

  https://www.news-medical.net/health/How-to-Manage-Nail-Patella-Syndrome.aspx

  This is a genetic disorder that is likely to affect the nails, kneecaps, elbows, kidneys, and eyes of the individual. […] Since Nail Patella Syndrome (NPS) is caused by a mutant gene which affects the embryonic development, it has no cure. […] There is no cure for NPS once diagnosed; It comes down to symptom management. […] The primary solution to orthopedic problems such as bone growth abnormalities would be corrective surgery. […] Physiotherapy and bracing are often used to alleviate physical discomfort and pain. […] Glaucoma is treated, as it would be for the normal population, with eye drops, and if required, a procedure is carried out to reduce ocular pressure due to fluid accumulation. […] Medication can help control more benign kidney related problems. […] If required doctors may advice dialysis for severe cases of nephropathy. […] Due to the possible presence of kidney disease, blood pressure will need to be closely monitored throughout pregnancy of an individual suffering from NPS. […] Bone density tests should be suggested in order to keep track of the individuals likelihood of developing osteoporosis.

• #55 Nail-Patella Syndrome (NPS) | Kellogg Eye Center | Michigan Medicine

  https://www.umkelloggeye.org/conditions-treatments/nail-patella-syndrome

  The treatment for NPS and glaucoma depends upon the severity of each case. In general, glaucoma cannot be cured, but it can be controlled. Glaucoma medications (either eye drops or pills), laser procedures, and surgical operations are used to slow further damage from occurring. […] With any type of glaucoma, periodic examinations are very important to prevent vision loss. Because glaucoma can worsen without your being aware of it, treatment may need to be changed over time.

• #56 Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study | Scientific Reports

  https://www.nature.com/articles/s41598-024-79239-9

  Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain. […] Conventional analgesics are often insufficient to relieve NPS-associated chronic pain. Cannabinoids, which act on the serotonergic and/or noradrenergic pain systems, may therefore represent valuable non-psychoactive alternatives for managing pain in these patients. […] The effectiveness and safety of synthetic cannabidiol (CBD) for the management of NPS-associated pain was assessed using real-world data from a pilot cohort of patients with NPS who received a 3-month treatment with oral CBD. […] CBD treatment was well tolerated and no elevations in liver enzyme levels were reported. Synthetic CBD therefore appears to be a safe and effective treatment option for managing NPS-associated chronic pain.

• #57 Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study | Scientific Reports

  https://www.nature.com/articles/s41598-024-79239-9

  Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain. […] Conventional analgesics are often insufficient to relieve NPS-associated chronic pain. Cannabinoids, which act on the serotonergic and/or noradrenergic pain systems, may therefore represent valuable non-psychoactive alternatives for managing pain in these patients. […] The effectiveness and safety of synthetic cannabidiol (CBD) for the management of NPS-associated pain was assessed using real-world data from a pilot cohort of patients with NPS who received a 3-month treatment with oral CBD. […] CBD treatment was well tolerated and no elevations in liver enzyme levels were reported. Synthetic CBD therefore appears to be a safe and effective treatment option for managing NPS-associated chronic pain.

• #58 Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study | Scientific Reports

  https://www.nature.com/articles/s41598-024-79239-9

  The main aim of the current study was therefore to evaluate the real-world effectiveness of a 3-month treatment with synthetic pharmaceutical-grade CBD for the management of chronic pain in patients with NPS. […] This study provided the first evidence supporting the effectiveness of a dose-increasing schedule of oral CBD for reducing pain intensity in patients with NPS. […] Oral treatment with synthetic CBD was associated with a significant reduction in pain in most of the patients with NPS included in our study, and led to improvements in most of the NPS-associated symptoms analyzed. Hence, synthetic oral CBD appears to be a safe and effective treatment option for NPS-associated pain, and may be an alternative to conventional analgesics for managing chronic pain in this pathology.

• #59 Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study | Scientific Reports

  https://www.nature.com/articles/s41598-024-79239-9

  The main aim of the current study was therefore to evaluate the real-world effectiveness of a 3-month treatment with synthetic pharmaceutical-grade CBD for the management of chronic pain in patients with NPS. […] This study provided the first evidence supporting the effectiveness of a dose-increasing schedule of oral CBD for reducing pain intensity in patients with NPS. […] Oral treatment with synthetic CBD was associated with a significant reduction in pain in most of the patients with NPS included in our study, and led to improvements in most of the NPS-associated symptoms analyzed. Hence, synthetic oral CBD appears to be a safe and effective treatment option for NPS-associated pain, and may be an alternative to conventional analgesics for managing chronic pain in this pathology.

• #60 Nail Patella Syndrome & Medical Marijuana | Medical Cannabis for Nail Patella Syndrome | What Is Nail-Patella Syndrome and can medical marijuana help?

  https://greenlightmmj.com/nail-patella/

  Medical marijuana has been helping patients relieve pain symptoms for centuries and is one of the top growing medicines used to battle chronic pain conditions that may arise from diseases like multiple sclerosis, nail patella, or Crohns disease. […] There is no cure for nail patella but medicinal cannabis may help people treat and manage their symptoms more effectively. […] That is why its important to discuss your nail patella syndrome with a marijuana doctor that is an expert on the subject and can offer the best guidance or marijuana treatment plan. Medical marijuana for nail-patella syndrome has become a crowd favorite because its a safe and effective treatment option as it can help with several complications that arise such as pain, glaucoma or kidney disease. […] Marijuana can help relieve various symptoms from nail patella syndrome like: Knee and Joint Pain, Kidney Disease, Glaucoma.

• #61 Treating Nail-Patella Syndrome – The Benefits of Medical Marijuana

  https://medcard.app/how-does-medical-marijuana-help-with-treat-nail-patella-syndrome/

  There are indications that medical marijuana is a great treatment option for people with nail patella syndrome. […] It is apparent that pain management is a serious concern for patients with nail patella syndrome and the long term use of painkillers can cause damage to the kidneys, thereby resulting in renal failure. […] There is no cure for nail patella syndrome and the treatment rather focuses on managing the symptoms. Pain relief medications such as acetaminophen and opioids are mostly used in managing the symptoms of nail patella syndrome. Physical therapies, splinting and surgery may also be treatment options for sufferers of nail patella syndrome. […] Research has suggested that medical marijuana can actually treat the following symptoms of nail patella syndrome: […] Medical marijuana equally works for nail patella syndrome patients with renal failure. […] It is imperative that more research be done on the use of medical cannabis in treating nail patella syndrome. Moreover, patients are encouraged to consult with their doctors before opting for medical marijuana as a complementary treatment of nail patella syndrome.

• #62 Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report. | ESPE2021 | 59th Annual ESPE (ESPE 2021 Online) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0094/hrp0094p2-330

  Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report. […] The diagnosis of NPS was confirmed at 9 years old by detecting of heterozygous pathogenic variant in the LMX1B gene (c.706GC). […] Growth hormone therapy was started at 9.5 years old at a dose of 0.033 mg/kg/day with height 118 cm (SDS=-2.7) and HV 3 cm/year on start moment. […] A good growth effect was after 1 year of therapy (at 10.5 years old): height 127 cm (SDS = -1.9), HV 9 cm/year. […] The good effect of one year of growth hormone therapy has been described in a boy with the NPS. To determine the effect of somatropin on the final growth and the incidence of side effects in NPS, it is necessary to exchange experience in the treatment of such children.

• #63 Nail-Patella Syndrome

  https://www.contemporarypediatrics.com/view/nail-patella-syndrome

  This 16-year-old boy with nailpatella syndrome (NPS) presented for routine follow-up. His medical care team consisted of an orthopedic surgeon who prescribed supportive orthotics for his knees and elbows; an endocrinologist who prescribed growth hormone therapy for failure to gain weight and height; and a nephrologist who evaluated him regularly for proteinuria and hypertension. […] Treatment depends on the child’s symptoms. Multispecialty interventions may be necessary. Patients may benefit from support groups, such as the National Organization for Rare Disorders (http://www.rarediseases.org). The prognosis is extremely variable; some patients may have mild symptoms, while others may become wheelchair-bound or require kidney transplant.

• #64 Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report. | ESPE2021 | 59th Annual ESPE (ESPE 2021 Online) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0094/hrp0094p2-330

  Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report. […] The diagnosis of NPS was confirmed at 9 years old by detecting of heterozygous pathogenic variant in the LMX1B gene (c.706GC). […] Growth hormone therapy was started at 9.5 years old at a dose of 0.033 mg/kg/day with height 118 cm (SDS=-2.7) and HV 3 cm/year on start moment. […] A good growth effect was after 1 year of therapy (at 10.5 years old): height 127 cm (SDS = -1.9), HV 9 cm/year. […] The good effect of one year of growth hormone therapy has been described in a boy with the NPS. To determine the effect of somatropin on the final growth and the incidence of side effects in NPS, it is necessary to exchange experience in the treatment of such children.

• #65 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyter.com/document/doi/10.1515/crpm-2018-0016/html?lang=en

  Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. […] Thus, close follow-up of renal functions and avoiding complications like preeclampsia in patients with nail-patella syndrome is the key point in follow-up of the disease. […] Having normal renal function seems to be one of the most important points for preserving renal function during the pregnancy and avoiding complications such as preeclampsia or gestational hypertension. […] It is critical to maintain normal pregestational renal function to avoid complications such as preeclampsia which is predisposed by nail-patella syndrome.

• #66 Azthena logo with the word Azthena

  https://www.news-medical.net/health/How-to-Manage-Nail-Patella-Syndrome.aspx

  This is a genetic disorder that is likely to affect the nails, kneecaps, elbows, kidneys, and eyes of the individual. […] Since Nail Patella Syndrome (NPS) is caused by a mutant gene which affects the embryonic development, it has no cure. […] There is no cure for NPS once diagnosed; It comes down to symptom management. […] The primary solution to orthopedic problems such as bone growth abnormalities would be corrective surgery. […] Physiotherapy and bracing are often used to alleviate physical discomfort and pain. […] Glaucoma is treated, as it would be for the normal population, with eye drops, and if required, a procedure is carried out to reduce ocular pressure due to fluid accumulation. […] Medication can help control more benign kidney related problems. […] If required doctors may advice dialysis for severe cases of nephropathy. […] Due to the possible presence of kidney disease, blood pressure will need to be closely monitored throughout pregnancy of an individual suffering from NPS. […] Bone density tests should be suggested in order to keep track of the individuals likelihood of developing osteoporosis.

• #67 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyter.com/document/doi/10.1515/crpm-2018-0016/html?lang=en

  Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. […] Thus, close follow-up of renal functions and avoiding complications like preeclampsia in patients with nail-patella syndrome is the key point in follow-up of the disease. […] Having normal renal function seems to be one of the most important points for preserving renal function during the pregnancy and avoiding complications such as preeclampsia or gestational hypertension. […] It is critical to maintain normal pregestational renal function to avoid complications such as preeclampsia which is predisposed by nail-patella syndrome.

• #68 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyter.com/document/doi/10.1515/crpm-2018-0016/html?lang=en

  In conclusion, despite the evident risk of preeclampsia in pregnancy, patients with nail-patella syndrome may have good obstetric outcomes with regular and strict follow-up performed at a tertiary center. The most important predictors seem to be normal renal function and the absence of marked proteinuria during the pregestational period.

• #69 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patellofemoral pain and patellar dislocation are common symptoms of NPS, which may be initially treated with conservative measures. Multiple surgical techniques and approaches have been described for the correction of patellar instability. Interestingly, one such surgical approach aims to resect a synovial band or plicae, which can contribute to patellar dislocation. Surgical removal of this synovial band has been reported to improve symptoms, but long-term outcomes of the procedure require further investigation. One survey in the Netherlands showed the majority of patients with NPS with knee symptoms were at least satisfied with their surgery, but the reported rate of patellar instability was the same between patients who underwent surgery and those who did not. […] No specific management guidelines have been proposed by any large medical organization. Sweeney et al. put forth recommendations that aim to maintain quality of life, provide genetic counseling for patients and their families, and provide screening measures to prevent NPS complications associated with elevated morbidity and mortality such as glaucoma and renal failure.

• #70 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  In this disease, knee pain and knee dislocation are common symptoms, which can initially be treated with non-surgical methods. However, several surgical techniques have been developed to fix the instability of the kneecap. Interestingly, one surgical method involves removing a synovial band or plicae, which is thought to contribute to kneecap dislocation. While this method has been reported to improve symptoms, more research is needed to study its long-term outcomes. A survey in the Netherlands indicated that most patients who underwent surgery for their knee symptoms were satisfied, but the rate of continued kneecap instability was the same for patients who had surgery and those who did not. […] As of now, no specific guidelines have been proposed by major medical organizations for the management of this disease. A group of researchers has suggested recommendations aiming to maintain the patients quality of life, provide genetic counseling for patients and their families, and take preventive measures to avoid complications such as glaucoma and kidney failure that could increase the risk of serious health problems and death.

• #71 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patients with NPS live a normal lifespan, and the reported association with malignancy is favored to be coincidental. Conservative and operative treatment strategies exist for patients with patellofemoral symptoms. Glaucoma and nephropathy are two potentially serious manifestations that are treatable and preventable with screening. In the case of nephropathy, patients with proteinuria or hypertension can be treated with angiotensin-converting enzyme inhibitors and, ultimately, with renal transplantation. […] The most potentially serious complications of NPS are acute open-angle glaucoma and renal failure. The prevalence of glaucoma has been reported at nearly 17% in patients over the age of 40 and is treatable and preventable with screening. Renal failure is the most feared complication of NPS and is the primary complication affecting mortality. The progression to renal failure in patients with NPS nephropathy can occur rapidly or after many years for reasons that are not fully understood. Like glaucoma, nephropathy is treatable and more importantly preventable with screening.

• #72 Nail-Patella Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25513

  Patients with NPS have multiple abnormalities, which can make understanding the various clinical manifestations of their condition challenging. A multidisciplinary approach is likely best, with most patients treated conservatively. Genetic counseling should be offered to all patients with nail-patella syndrome and their families. Emphasis should be placed on screening for serious complications, particularly nephropathy and glaucoma.

• #73 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  Patients with Nail Patella Syndrome (NPS) usually live as long as others, and any reported links with cancer are thought to be coincidental. There are non-surgical and surgical treatment options available for patients experiencing knee cap related symptoms. […] In terms of kidney disease, patients with signs of protein in their urine (proteinuria) or high blood pressure could be treated with a type of medication called an angiotensin-converting enzyme inhibitor, and in extreme cases, a kidney transplant may be an option.

• #74

  https://99nicu.org/forums/topic/305-nail-patella-syndrome/

  The NailPatella Syndrome (Fong Syndrome) is inherited as autosomal dominant (AD). Is caused by a defect in the LMX1B gene that is characterized by hypoplastic patella, nail dystrophy with triangular lunula, posterior iliac horns, pigmentation of the margin of the pupils (Lester iris), and glomerulonephropathy. Triangular nail lunulae is the pathognomonic sign of this syndrome. […] Recommendations for the care of patients with NPS Annual screening for renal disease from birth. This should include blood pressure and urine analysis. A urine albumin:creatinine ratio on a first morning urine is preferable to urine analysis dipsticks as it is a more sensitive measure and corrects for concentration of the urine. If any abnormalities are detected the patient should then be referred to a renal physician for further investigation and follow up.

• #75 Nail patella syndrome

  https://www.oatext.com/nail-patella-syndrome.php

  Nail Patella Syndrome is an autosomal dominant disease evidenced by hypoplasia or absence of patella, nail dysplasia, limited elbow motion, and presence of iliac horns. […] Kidney failure may appear to happen rapidly or after many years of asymptomatic proteinuria. For patients with stage V of CKD as a result of NPS, renal transplantation has resulted favorably. No ultrastructural abnormalities are reported and no cases of disease recurrence have been documented. […] Patients with a history or family history of NPS should be examined for kidney disease annually by the primary care. This includes blood pressure monitoring and urinalysis. An ophthalmologic evaluation may also be considered in cases of NPS including optic disc, visual field and intraocular pressure evaluation in order to detect glaucoma. If abnormalities are detected, the patient should be referred to a nephrologist and ophthalmologist for evaluation and follow up. Genetic counseling, when available, should be offered to all patients with NPS.

• #76 A Simple Guide to Nail Patella Syndrome, Diagnosis, Treatment and Related Conditions by Kenneth Kee | eBook | Barnes & Noble®

  https://www.barnesandnoble.com/w/a-simple-guide-to-nail-patella-syndrome-diagnosis-treatment-and-related-conditions-kenneth-kee/1143702295

  There is no curative treatment for nail patella syndrome. […] Nail-patella syndrome is a lifelong disorder, and treatment is directed on managing specific symptoms and improving quality of life. Medicines for high blood pressure and glaucoma, Braces and splints for abnormalities concerning the bones, Surgeries to correct bone abnormalities, Physical therapy, Dialysis for chronic kidney malfunction, Kidney transplantation for end-stage renal disease. […] With proper treatment, persons with nail-patella syndrome can lead fulfilling lives.

• #77

  https://books.apple.com/us/book/a-simple-guide-to-nail-patella-syndrome-diagnosis/id6450652748

  There is no curative treatment for nail patella syndrome. […] Nail-patella syndrome is a lifelong disorder, and treatment is directed on managing specific symptoms and improving quality of life. […] Medicines for high blood pressure and glaucoma. […] Braces and splints for abnormalities concerning the bones. […] Surgeries to correct bone abnormalities. […] Physical therapy. […] Dialysis for chronic kidney malfunction. […] Kidney transplantation for end-stage renal disease. […] With proper treatment, persons with nail-patella syndrome can lead fulfilling lives.

• #78 A Simple Guide to Nail Patella Syndrome, Diagnosis, Treatment and Related Conditions, eBook by Kenneth Kee | 9798215738542 | Booktopia

  https://www.booktopia.com.au/a-simple-guide-to-nail-patella-syndrome-diagnosis-treatment-and-related-conditions-kenneth-kee/ebook/9798215738542.html?srsltid=AfmBOorkGMr8jEjYgBE1i678FdXtEVkytXmS76pIK1IOeCcTJr-xy0OW

  There is no curative treatment for nail patella syndrome. […] Nail-patella syndrome is a lifelong disorder, and treatment is directed on managing specific symptoms and improving quality of life. Medicines for high blood pressure and glaucoma Braces and splints for abnormalities concerning the bones Surgeries to correct bone abnormalities Physical therapy Dialysis for chronic kidney malfunction Kidney transplantation for end-stage renal disease. […] With proper treatment, persons with nail-patella syndrome can lead fulfilling lives.

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