Materiały źródłowe

• #1 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. Ocular, renal, and neurological involvement can occur. 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). […] 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.

• #1 Nail-Patella Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1132/

  Nail-patella syndrome (NPS) encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. […] Treatment of manifestations: Orthopedic problems may be helped by analgesics, physiotherapy, splinting, bracing, or surgery; MRI of joints to identify abnormal anatomy is important prior to surgery so that appropriate surgical treatment can be planned in advance; ACE inhibitors to control blood pressure and possibly to slow progression of proteinuria; kidney transplantation as needed; standard treatment for decreased bone mineral density, hypertension, constipation/inflammatory bowel disease, glaucoma, epilepsy, and dental anomalies. […] Surveillance: At least annually: monitoring of blood pressure for hypertension; assessment of urinalysis and first-morning urine albumin-to-creatinine ratio for kidney disease; screening for glaucoma (as soon as a child is compliant). Dental examination at least every six months and DXA scan as needed.

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

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

  Nail patella syndrome (NPS) is a rare genetic disorder. […] 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. […] If a person or their parent or guardian suspects they may have nail patella syndrome, speaking with a primary care doctor may be a good first step. The doctor may be able to help determine whether someone has the condition and help build a team of specialists to provide treatments. […] With monitoring and treatment, a person with NPS can generally maintain a high quality of life. However, the conditions potential effects on the kidneys may influence a persons overall outcome. […] A person with a diagnosis of NPS may wish to seek genetic counseling before having children. Speaking with a doctor may help those who want to have children plan for the potential of passing the condition to a child.

• #1 Nail-Patella Syndrome: Symptoms & Causes

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

  Your child will likely need routine follow-ups with several different healthcare providers. Your childs care team will tell you exactly which appointments are necessary and how often. […] Providers can help you explain the importance of these tests to your child. […] Talk to your childs providers about connecting with support groups, therapists and social workers. Having a team of experienced parents and healthcare professionals supporting your family can make a huge difference from day to day.

• #1 Nail-Patella Syndrome

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

  The classic clinical tetrad of nail-patella syndrome (also known as Fong disease, Turner syndrome, and hereditary onycho-osteodysplasia) involves the nails, knees, and elbows, and the presence of iliac horns. This autosomal dominant condition is associated with the LMX1B gene on chromosome 9 (9q34). The incidence is roughly estimated at 1 in 50,000. The syndrome has been reported in a variety of ethnic groups. […] 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.

• #1 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. […] Patients require regular screening for scoliosis and lordosis. […] Treatment depends on the child’s symptoms. Multispecialty interventions may be necessary. […] The prognosis is extremely variable; some patients may have mild symptoms, while others may become wheelchair-bound or require kidney transplant.

• #1 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.

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

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

  Nail-patella syndrome (NPS) is a rare genetic disorder that affects the development of nails, bones, and other body systems. […] This article provides a comprehensive overview of Nail-patella syndrome, covering risk factors, symptoms, diagnostic tests, treatment options, and home management strategies. […] While there is no cure, many individuals with NPS can lead healthy, fulfilling lives with appropriate care. […] Regular monitoring of kidney function is essential for individuals with NPS, as early intervention can help manage complications. […] Pain management strategies, including physical therapy and medications, can help alleviate discomfort. […] Physical therapy can enhance joint function, particularly in the knees and elbows, and help prevent muscle weakness and joint contractures.

• #1 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 disease: Renal involvement is present in approximately 40% of patients with NPS; it affects men and women equally. The degree of renal involvement varies between families and within members of the same family. […] 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.

• #1 Nail patella syndrome

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

  Nail patella syndrome is a rare genetic condition that can cause problems with the nails, bones and kidneys. […] 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. […] Urine tests should be carried out at birth to check for kidney problems. […] It’s recommended that pregnant women with the condition have their blood pressure taken and urine tested frequently. […] If your kidneys aren’t working properly, you may need dialysis, where a machine is used to replicate many of the kidney’s functions. […] Screening for glaucoma should start as soon as a child is able to co-operate with the examination. […] A dental examination should be carried out at least every 6 months. […] An assessment of bone density is recommended for young adults to check for osteoporosis.

• #1 Nail-Patella Syndrome | Consultant360

  https://www.consultant360.com/articles/nail-patella-syndrome-0

  This 16-year-old boy with nailpatella syndrome (NPS) presented for routine follow-up. […] Patients require regular screening for scoliosis and lordosis. Proteinuria is a common finding. […] 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.

• #1 Genetics of Nail-Patella Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/947391-followup

  ACE inhibitors for proteinuria, hypertension, or both are indicated in patients with nail-patella syndrome (NPS). Consultation with a nephrologist may permit implementation of prophylactic treatment with ACE inhibitors. […] Dialysis and/or renal transplant may be indicated in as many as 5% of patients who have renal involvement that progresses to end-stage renal disease. […] Physical therapy, bracing, and analgesics may be needed for joint pain. Caution is necessary in using analgesics, particularly nonsteroidal anti-inflammatory drugs (NSAIDs) because renal disease may also be part of this condition. […] Renal transplantation has proven successful in patients with nail-patella syndrome who develop end-stage renal disease. […] Patella realignment surgery may help in cases of recurrent dislocation. Joint replacement may be beneficial in cases of severe osteoarthritis of the knee or elbow. […] Joint abnormalities and pain may limit physical activity.

• #1 Nail-Patella Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1132/

  Agents/circumstances to avoid: Chronic use of NSAIDs because of the detrimental effect on kidney function. […] Pregnancy management: The risk of developing preeclampsia may be increased in pregnant women with NPS; hence, frequent urinalysis and blood pressure measurement is recommended during pregnancy. For women taking an ACE inhibitor, transitioning to an alternative treatment ideally prior to pregnancy, or at least as soon as pregnancy is recognized, is recommended to avoid potential adverse effects of ACE inhibitors on the developing fetus. […] Genetic counseling: Nail-patella syndrome is inherited in an autosomal dominant manner. Eighty-eight percent of individuals with NPS have an affected parent; 12% of affected individuals have a de novo pathogenic variant. The offspring of an affected individual are at a 50% risk of inheriting NPS. Prenatal testing and preimplantation genetic testing are possible if the pathogenic variant in the family has been identified.

• #1 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. […] Chiropractors are in a great position to help diagnose this condition since they focus on whole-body dysfunction and the root cause of patient symptomatology. Chiropractors may also provide lifestyle advice to patients with NPS and can refer to other specialties when major symptoms arise. […] 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. […] Pain was tracked by verbal confirmation from the child and his parents and showed a decrease and no more waking up at night. […] Early detection from a portal-of-entry physician was a valuable tool in helping a patient and his family manage NPS.

• #1

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

  Screening for glaucoma every two years in adulthood. This should include measurement of intraocular pressure, examination of the optic disc, and assessment of visual fields in order to detect normal pressure glaucoma. If any abnormalities are detected, patients should be referred to an ophthalmologist. […] 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.

• #1 Nail-patella syndrome and Medical Marijuana

  https://www.greenleafclinics.com/nail-patella-syndrome-and-medical-marijuana.html

  Nail-patella syndrome is a rare genetic disorder involving the bones, joints, and connective tissue. Patients may have problems due to limitation of joint mobility, dislocation or both, especially at the elbow and knee where osteoarthritis may eventually occur. Nail-patella patients are also at increased risk for glaucoma and kidney problems. […] Medical marijuana helps relieve the associated pain. Recent evidence suggests that glaucoma is also part of Nail Patella Syndrome. […] While there is a lack of controlled research on marijuana and nail-patella, one of the three patients who still receive medical marijuana from the federal government George McMahon suffers from the condition, and his case is described in the one study of these patients that has been published. […] He indicates that he has been short on his supply 3 times in 10 years, generally for 1-2 weeks, secondary to lack of supply or paperwork problems. When this occurs he suffers more nausea and muscle spasms and is less active as a consequence.

• #1 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.

• #1 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

  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. The treatment also led to improvements in several NPS-associated symptoms and in health-related QoL in most of the patients. […] 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.

• #1 The Course of Pregnancy in a Patient with Nail-Patella Syndrome – Annals Singapore

  https://annals.edu.sg/the-course-of-pregnancy-in-a-patient-with-nail-patella-syndrome/

  Such pregnancies should be regarded as high risk and managed jointly with the renal physician in a tertiary care centre to ensure an optimal outcome to the mother and baby. […] The nail-patella syndrome (NPS) is a rare autosomal dominant disorder defined by the association of nail dysplasia, bone abnormalities and, frequently, renal disease.

• #1 Nail-Patella Syndrome: Symptoms & Causes

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

  Nail-patella syndrome affects how your childs nails and bones form. Providers can treat symptoms to help your child move around more comfortably and lower their risk of complications. […] Learning your child has a genetic condition may make you scared or anxious. This is normal, and its OK to express your concerns to your childs healthcare providers. But take some comfort in knowing that providers can do a lot to treat symptoms and lower your childs risk of complications. […] 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. […] 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.

• #1 Nail-Patella Syndrome | Consultant360

  https://www.consultant360.com/articles/nail-patella-syndrome

  This 16-year-old boy with nailpatella syndrome (NPS) presented for routine follow-up. […] 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.

• #1 Sue’s story: Discovering I had Nail Patella Syndrome

  https://www.tellingstories.nhs.uk/index.php/all-stories/147-sues-story

  This highlights the need to convey accurate, creditable information about genetic conditions in a comprehensible and sensitive way (GP-2b). […] NPS is a multisystem disorder resulting in renal complications and glaucoma and Sue talks about wishing to publicise information on NPS to renal and ophthalmology clinics. This reminds us that genetic conditions can often be multi-system disorders affecting more than one part of the body, and accordingly, their management is likely to involve liaison between various specialist health professionals (GP-4a). […] It is important for healthcare providers to know where to obtain current, credible information about genetic conditions (MS6) and to communicate such information to patients and their families in a clear and understandable way (MS4).

• #1 Sue’s story: Discovering I had Nail Patella Syndrome

  https://www.tellingstories.nhs.uk/index.php/all-stories/147-sues-story

  Recognition by a colleague that there might be a medical reason for Sue’s brittle nails and lack of thumb nails, led to her being referred on and a diagnosis being made (NCG 1). […] Sue comments that the limited availability of information on Nail-Patella syndrome means that it is very difficult for any doctor to treat a potential patient and that good documented evidence could improve patient care. NCG 7 reminds us that not only must we be able to obtain and communicate information for ourselves, clients and colleagues, but that it must be current and credible. […] A nursing colleague noticed Sue’s symptoms and, recognising his own professional limits, arranged for her to be referred to a doctor for further investigation (GP-8a). The doctor was subsequently able to identify that Sue had the rare genetic condition Nail-Patella syndrome despite having no known family history (GP-1b).

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

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

  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. […] Prognosis is good with screening precautions and early intervention of symptoms under the care of an interprofessional healthcare team.

• #1 Azthena logo with the word Azthena

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

  There is no cure for NPS once diagnosed; It comes down to symptom management. […] The primary care givers of children with NPS should be told to watch out for symptoms that may require closer examination. […] Each symptom will require to be treated individually by a specialist. […] 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. […] Annual urine tests can be used to screen for malfunctioning of the kidneys. […] Due to the possible presence of kidney disease, blood pressure will need to be closely monitored throughout pregnancy of an individual suffering from NPS. […] This is important as early intervention for children with NPS can allow them to receive the social support and physical treatment that can make their lives easier. […] Bone density tests should be suggested in order to keep track of the individuals likelihood of developing osteoporosis.

• #2 Nail patella syndrome

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

  Nail patella syndrome is a rare genetic condition that can cause problems with the nails, bones and kidneys. […] 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. […] Urine tests should be carried out at birth to check for kidney problems. […] It’s recommended that pregnant women with the condition have their blood pressure taken and urine tested frequently. […] If your kidneys aren’t working properly, you may need dialysis, where a machine is used to replicate many of the kidney’s functions. […] Screening for glaucoma should start as soon as a child is able to co-operate with the examination. […] A dental examination should be carried out at least every 6 months. […] An assessment of bone density is recommended for young adults to check for osteoporosis.

• #2 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/

  Nail patella syndrome is transmitted in an autosomal dominant fashion, so a careful family history may identify other affected individuals. […] Overall, patients with the Nail Patella syndrome are thin, and have difficulty putting on weight despite an adequate food intake. […] The patella of patients with Nail Patella syndrome can be absent, small, irregularly shaped, or asymmetrically developed. A common finding is recurrent subluxation or dislocation of the patella. Patients can describe knee instability. […] The most serious issue that can be lethal in nail patella syndrome is renal failure. […] 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.

• #2 Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy | European Journal of Human Genetics

  https://www.nature.com/articles/5201446

  Since GFR was significantly lower in proteinuric individuals compared to nonproteinuric cases, we recommend annual screening of CrC for detecting changes in glomerular filtration in proteinuric patients. […] In agreement with the recommendations for clinical management proposed by Sweeney et al., we stress the necessity of annual measurement of albumin/creatinine ratio in a first morning specimen starting from birth and additionally annual ophthalmologic screening, including investigation of glaucomatous optic disk alterations from late childhood. […] NPS patients carrying mutations in the HD of LMX1B, especially from families with a positive family history of nephropathy, require comprehensive renal studies.

• #2

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

  Screening for glaucoma every two years in adulthood. This should include measurement of intraocular pressure, examination of the optic disc, and assessment of visual fields in order to detect normal pressure glaucoma. If any abnormalities are detected, patients should be referred to an ophthalmologist. […] 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.

• #2 Azthena logo with the word Azthena

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

  There is no cure for NPS once diagnosed; It comes down to symptom management. […] The primary care givers of children with NPS should be told to watch out for symptoms that may require closer examination. […] Each symptom will require to be treated individually by a specialist. […] 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. […] Annual urine tests can be used to screen for malfunctioning of the kidneys. […] Due to the possible presence of kidney disease, blood pressure will need to be closely monitored throughout pregnancy of an individual suffering from NPS. […] This is important as early intervention for children with NPS can allow them to receive the social support and physical treatment that can make their lives easier. […] Bone density tests should be suggested in order to keep track of the individuals likelihood of developing osteoporosis.

• #2 Japan Pediatric CKD Research Group

  https://pckd.jpn.org/en/disease/nail-patella-syndrome.html

  Nail-patella syndrome is a hereditary disease characterized by dysplastic nails (nails with abnormal shape), absent or hypoplastic patellae (small or missing knee caps), elbow dysplasia (elbow deformities), and iliac horns (bony outgrowths of ilium). […] There is no specific treatment for nail, knee, or elbow joint abnormalities in nail-patella syndrome. Analgesics or appliances (called braces) may be used in some patients. There are also patients who require surgical treatment for joint symptoms or glaucoma. For kidney disease, treatment for chronic kidney disease may apply, depending on kidney function. […] Nephropathy is a significant threat to quality of life. The reported incidence of kidney involvement varies from 35% to 50%, and it is often noticed during childhood. Among these patients, 10% to 30% progress to end-stage kidney disease. Patients with heavy proteinuria tend to progress to severe chronic kidney disease. Patients with impaired renal function often carry a mutation in the N-terminus or homeodomain of the LIM domain of LMX1B.

• #2 Nail-Patella Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1132/

  Nail-patella syndrome (NPS) encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. […] Treatment of manifestations: Orthopedic problems may be helped by analgesics, physiotherapy, splinting, bracing, or surgery; MRI of joints to identify abnormal anatomy is important prior to surgery so that appropriate surgical treatment can be planned in advance; ACE inhibitors to control blood pressure and possibly to slow progression of proteinuria; kidney transplantation as needed; standard treatment for decreased bone mineral density, hypertension, constipation/inflammatory bowel disease, glaucoma, epilepsy, and dental anomalies. […] Surveillance: At least annually: monitoring of blood pressure for hypertension; assessment of urinalysis and first-morning urine albumin-to-creatinine ratio for kidney disease; screening for glaucoma (as soon as a child is compliant). Dental examination at least every six months and DXA scan as needed.

• #2 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

  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.

• #2 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. […] Chiropractors are in a great position to help diagnose this condition since they focus on whole-body dysfunction and the root cause of patient symptomatology. Chiropractors may also provide lifestyle advice to patients with NPS and can refer to other specialties when major symptoms arise. […] 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. […] Pain was tracked by verbal confirmation from the child and his parents and showed a decrease and no more waking up at night. […] Early detection from a portal-of-entry physician was a valuable tool in helping a patient and his family manage NPS.

• #2 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

  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. The treatment also led to improvements in several NPS-associated symptoms and in health-related QoL in most of the patients. […] 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.

• #2 The Course of Pregnancy in a Patient with Nail-Patella Syndrome – Annals Singapore

  https://annals.edu.sg/the-course-of-pregnancy-in-a-patient-with-nail-patella-syndrome/

  Such pregnancies should be regarded as high risk and managed jointly with the renal physician in a tertiary care centre to ensure an optimal outcome to the mother and baby. […] The nail-patella syndrome (NPS) is a rare autosomal dominant disorder defined by the association of nail dysplasia, bone abnormalities and, frequently, renal disease.

• #2 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/

  Patient managment should focus on monitoring and prevention of serious complications. […] Refer to a nephrologist for annual screening for renal disease from birth. […] Refer to opthalmology for routine screening for glaucoma, including measurement of intraocular pressure, examination of the optic disc, and assessment of visual fields. […] Before orthopedic abnormalities are treated, evaluation of the bone and soft tissue should be undertaken by magnetic resonance imaging (MRI). […] Genetic counseling should be offered.

• #2 Nail-Patella Syndrome: Symptoms & Causes

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

  Your child will likely need routine follow-ups with several different healthcare providers. Your childs care team will tell you exactly which appointments are necessary and how often. […] Providers can help you explain the importance of these tests to your child. […] Talk to your childs providers about connecting with support groups, therapists and social workers. Having a team of experienced parents and healthcare professionals supporting your family can make a huge difference from day to day.

• #2 Nail Patella Syndrome: Understanding Symptoms, Causes, and Management • Yesil Health

  https://yesilhealth.com/your-health/nail-patella-syndrome-understanding-symptoms-causes-and-management/

  Regular monitoring is essential for individuals with Nail Patella Syndrome, especially for kidney function and bone health. Healthcare providers may recommend: […] Routine Check-ups: Regular visits to monitor symptoms and adjust treatment plans as necessary. […] Support Groups: Connecting with others who have NPS can provide emotional support and practical advice on managing the condition. […] For families affected by Nail Patella Syndrome, genetic counseling can be beneficial. This service provides information about the inheritance pattern of the syndrome, potential risks for future children, and available testing options. Understanding the genetic aspects can empower families to make informed decisions. […] By understanding the complications associated with Nail Patella Syndrome and implementing effective management strategies, individuals can improve their quality of life and navigate the challenges of this condition more effectively.

• #2 Sue’s story: Discovering I had Nail Patella Syndrome

  https://www.tellingstories.nhs.uk/index.php/all-stories/147-sues-story

  This highlights the need to convey accurate, creditable information about genetic conditions in a comprehensible and sensitive way (GP-2b). […] NPS is a multisystem disorder resulting in renal complications and glaucoma and Sue talks about wishing to publicise information on NPS to renal and ophthalmology clinics. This reminds us that genetic conditions can often be multi-system disorders affecting more than one part of the body, and accordingly, their management is likely to involve liaison between various specialist health professionals (GP-4a). […] It is important for healthcare providers to know where to obtain current, credible information about genetic conditions (MS6) and to communicate such information to patients and their families in a clear and understandable way (MS4).

• #2 34722 Nail-patella syndrome: An early dermatologic diagnosis

  https://scholarlycommons.henryford.com/dermatology_mtgabstracts/225/

  Nail-patella syndrome (NPS) was suspected. […] Early identifications of NPS is important since almost half of affected individuals develop renal abnormalities including proteinuria, hematuria, nephrotic syndrome, that may progress to end-stage renal disease. […] This case highlights the role of dermatologists in recognizing these early clinical features to facilitate early multidisciplinary care.

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

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

  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.

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