Materiały źródłowe

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

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

  The incidence of nail-patella syndrome has been reported as 1 in 50,000. […] It is common for families affected by NPS to remain undiagnosed for multiple generations even though the diagnosis can be made at birth, which casts further uncertainty regarding the conditions true incidence.

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

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

  Nail-patella syndrome (NPS) is inherited in an autosomal dominant manner. […] The prevalence of NPS has been roughly estimated at 1:50,000 but may be higher because of undiagnosed individuals with a mild phenotype. […] 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.

• #3 Genetics of Nail-Patella Syndrome: Practice Essentials, Pathophysiology, Epidemiology

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

  Nail-patella syndrome has been recognized for more than 100 years. It has an estimated prevalence of 1 per 50,000 live births. […] Nail-patella syndrome has been described in multiple populations. […] The severity of clinical features and manifestations cannot be predicted. Orthopedic problems may be treated with analgesics, physical therapy, bracing, and/or surgery. […] Renal disease that manifests as proteinuria with or without hematuria occurs in 30-50% of patients, but progression to end-stage renal disease occurs in less than 5%. […] Hypertension and renal disease are treated as in the general population, with recognition that ACE inhibitors have been shown to slow progression of proteinuria in nail-patella syndrome. […] Patients who have undergone renal transplantation usually have good results.

• #4 Orphanet: Nail-patella syndrome

  https://www.orpha.net/en/disease/detail/2614

  A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. […] The reported prevalence is 1/50,000; however, epidemiological studies are lacking. […] NPS is inherited in an autosomal dominant manner. Each child of an NPS affected individual has a 50% chance of inheriting the LMX1B pathogenic variant of the disease. […] The renal pathology is a major determinant of the prognosis, as proteinuria, hypertension, and hematuria occur in 30 – 60% of the patients; 5 % progress to chronic renal failure.

• #5 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. The incidence is reported between 1:50,000 and 1:250,000. Most NPS patients present with knee symptoms. Regularly they have anterior knee pain and patellar instability in both knees. In the literature, the etiology and clinical significance of this anatomic abnormality remain unclear to date. Diagnostics with MRI is important. We recommend early arthroscopic septum resection before school enrollment of the patient. 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. […] The thick sagittally oriented septum in the femoral trochlea leads to pathognomonic anatomic developments during growth: (1) the trochlea femoris becomes deep and scalloping; (2) the patella remains on the lateral side of the septum and cannot center into the trochlea.

• #6 Medwin Publishers | Nail Syndrome Patella: Needs and Obligation to Renal Surveillance

  https://medwinpublishers.com/article-description.php?artId=1100

  The „Nail-Patella syndrome” or onycho-osteodysplasia is transmitted as an autosomal dominant pleiotropic whose manifestations suggest an abnormality primary connective tissue. […] Nail Patella Syndrome (NPS) is a rare genetic disease, estimated at 22 cases / million in contrast to the poverty of familial cases reported in the literature impact. […] During the SNP renal disease is objectified in half of cases among both men and women. […] The development of means including immune histochemical diagnostic and genetic genital will in the near future to determine the risk of developing since renal impairment was observed that the collagen fibrils are a constant manifestation of the SNP and are also observed in patients with renal impairment is not clinically detectable.

• #7 Genetics of Nail-Patella Syndrome: Practice Essentials, Pathophysiology, Epidemiology

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

  Glaucoma should also be treated as in the general population, but with increased surveillance in all patients with nail-patella syndrome (eg, annual ophthalmologic examination with glaucoma screening). […] No race predilection has been reported. […] Males and females are equally affected. […] Prenatal diagnosis based on ultrasonography detection of iliac horns is reported; talipes may also be detected on antenatal ultrasonography. Nail anomalies and contractures of the knees or elbows may be noted at birth. Abnormal patellae are often noted in early childhood. Renal disease may occur at any age. When present, the onset of glaucoma or ocular hypertension is usually in adulthood but at an earlier age than in the general population. Other disease manifestations span all ages.

• #8 Nail-Patella Syndrome | Consultant360

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

  NPS (hereditary onycho-osteodysplasia, iliac horn syndrome, Turner-Keiser syndrome) is an autosomal dominant disorder that affects mainly the fingernails, bone joints, and kidney and occasionally the eyes and skin. It is rarely associated with colon cancer. The prevalence is 1 in 50,000 births. Boys and girls of all ethnic groups are affected equally. When a parent has NPS, each child has a 50% chance of inheriting the disease-causing mutations. New mutations can occur with no family history of the syndrome. […] Patients require regular screening for scoliosis and lordosis. Proteinuria is a common finding. Associated ophthalmic conditions include open-angle glaucoma (caused by blockage of the outflow of aqueous humor) and iris pigmentary changes (Lester sign). […] Kidney biopsy, radiographs, and ophthalmological evaluation can aid diagnosis. Molecular genetic testing of LMX1B, the only gene known to be associated with NPS, is available on a clinical basis.

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

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

  Nail patella syndrome is rare; 1 in 50,000 individuals are thought to be affected with the disease. It affects men and women equally. […] Due to increased risk of kidney and eye problems, annual monitoring of blood pressure, urine tests and eye examinations should be done.

• #10 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.

• #11 My Joomla Site

  http://www.npsw.org/

  Nail Patella Syndrome (also called Fong’s Disease, Hereditary Onycho-Osteodysplasia [’HOOD’] is characterized by several typical abnormalities of the arms and legs as well as kidney disease and glaucoma. […] The incidence is approximately 1 in 50,000 and occurs throughout the world in all ethnic groups.

• #12 Novel LMX1B variants in nail-patella syndrome | HKMJ

  https://www.hkmj.org/abstracts/v31n1/75.htm

  Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant multisystem disorder with an estimated prevalence of 1 in 50 000 population. […] Despite its complete penetrance, underdiagnosis is suspected due to highly variable expressivity; presentations range from clinically significant skeletal anomalies accompanied by end-stage renal disease to isolated nail dystrophy. […] The achievement of a molecular diagnosis has broad implications for surveillance and management because ophthalmic and gastrointestinal involvement have been reported in association with NPS. […] Nail anomalies are the most common feature, identified in 95% of affected individuals, consistent with observations in our cohort. […] Skeletal anomalies involving the knee and elbow are described in 70% of affected individuals. […] Renal involvement, reported in up to half of affected individuals and associated with the risk of end-stage kidney disease, was identified in only one individual in our cohort. […] Ophthalmic involvement has been reported in 10% to 25% of affected individuals.

• #13 Nail-Patella Syndrome – MD Searchlight

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

  Nail-patella syndrome is quite rare, affecting about 1 in every 50,000 people. […] Because this syndrome is genetic, it can vary a lot in how it shows up, which might make people doubt the reported rates of this condition. […] So, we arent completely sure about the actual rates of this condition. […] Kidney-related symptoms occur in 30-60% of affected individuals. This aspect of the syndrome significantly influences the patients survival rate as it can rapidly progress to kidney failure in about 10% of patients. […] The most dangerous complications of Nail-Patella Syndrome (NPS) are a type of eye disease called acute open-angle glaucoma and kidney failure. […] The progression to kidney failure in Nail-Patella Syndrome can happen very quickly or may take several years, and we dont fully understand why.

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

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

  The incidence of nail-patella syndrome has been reported as 1 in 50,000. The genetic basis of this syndrome leads to significant variability in clinical presentation, which may play a role in the skeptical confidence of the reported incidence figure. It is common for families affected by NPS to remain undiagnosed for multiple generations even though the diagnosis can be made at birth, which casts further uncertainty regarding the conditions true incidence. […] Nail-patella syndrome with renal involvement can be suspected on routine urinalysis, as evidenced by proteinuria with or without hematuria, which is usually the initial manifestations. Renal biopsy is confirmatory. […] 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.

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

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

  Nail patella syndrome (NPS) is a rare genetic disorder. […] The condition affects fewer than 50,000 people in the United States. […] According to the National Organization for Rare Disorders (NORD), about 30-50% of people with this condition develop issues with their kidneys during childhood or adulthood, and about 5% may experience kidney failure. […] Diagnosis can occur at birth, in early childhood, or later in life. […] NPS may take a long time for doctors to diagnose. Delays in diagnosis can occur for the following reasons: Healthcare professionals may not be familiar with the condition. […] A person who has received a diagnosis of NPS will likely need yearly screenings to check for the development of complications such as reduced kidney function, problems with the eyes, and high blood pressure. […] With monitoring and treatment, a person with NPS can generally maintain a high quality of life.

• #16 Nail patella syndrome

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

  Nail Patella Syndrome (NPS) is a mutational, hereditary disease resulting in a loss of functionality in transcription factor LMX1B. It is transmitted with an autosomal dominant inheritance pattern with complete penetrance. It is estimated that it occurs in one out of every 50,000 births and is transmitted through autosomal dominant inheritance. The estimated incidence of NPS is 22 per million inhabitants. Base on this statistics, the existence of 352 cases can be predicted for Guatemala, however to date no cases have been reported. About 40% of patients will show abnormalities in urinalysis, consisting in proteinuria and hematuria. Of those with kidney damage, 5-10% develop nephrotic range proteinuria in childhood or adolescence and can progress to End Stage Renal Disease (ESRD). Renal involvement is present in approximately 40% of patients with NPS; it affects men and women equally. The first sign of renal disease as a result of NPS is proteinuria. 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. 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.

• #17 Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described | Nefrología

  https://www.revistanefrologia.com/en-nail-patella-syndrome-a-case-with-articulo-X2013251413052799

  The nail-patella syndrome is an uncommon hereditary disease caused by mutations that result in a loss of function of the transcription factor LMX1B. Prevalence is estimated at 1/50,000 new-born babies. It is transmitted with an autosomal dominant inheritance pattern with complete penetrance. […] Around 40% of patients show renal involvement consisting of haematuria and proteinuria. 5-10% develop nephrotic range proteinuria in childhood or adolescence and progress to terminal renal failure within varying periods of time. […] In this disease, more than 130 different mutations have been described, mainly consisting of changes in just one nucleotide. They are predominantly distributed between exons 2 and 6. A more common series of mutations has been described which together represent 30% of the total. 12% of mutations are de novo. […] The confirmation of a mutation in the LMX1B gene avoids the need to perform a renal biopsy to confirm diagnosis. There is no specific treatment. There is no recurrence of lesions of the glomerular basement membrane after renal transplantation.

• #18 Nail-patella syndrome – UpToDate

  https://www.uptodate.com/contents/nail-patella-syndrome

  Nail-patella syndrome (NPS, MIM #161200) or hereditary osteo-onychodysplasia (HOOD syndrome) is a rare autosomal dominant disorder. It is characterized by limb and pelvic skeletal abnormalities (eg, hypoplastic or absent patella, dysplasia of elbows, including pterygia, and iliac horns), nail and distal digital abnormalities, and kidney disease. […] The estimated incidence of NPS is 1 per 50,000. The disease has been reported in patients all around the world. […] Approximately 85 percent of families with NPS present with mutations of the LMX1B gene located at the distal end of the long arm of chromosome 9.

• #19 Nail-Patella Syndrome | Twitter Poll | Arkana Laboratories

  https://www.arkanalabs.com/twitter-poll-august-5-2020/

  Nail-Patella syndrome is a rare autosomal dominant disease with an incidence of approximately 1/50,000. The majority of cases are due to a mutation in LMX1B located at chromosome 9q34.1. […] While there is no specific therapy for this disease, only about 10% of patients will progress to ESRD.

• #20 Rare Disease Education: Nail-Patella Syndrome

  https://sdgresources.relx.com/features/rare-disease-education-nail-patella-syndrome

  Nail-Patella Syndrome is a genetic disorder that affects approximately one in 50 thousand people and typically runs in families with 90% of people with this Zebra having an affected parent. […] When suspected, genetic testing for LMX1B mutations confirms the diagnosis. […] Treatment is directed towards specific symptoms but usually requires coordination between a team of different specialists.

• #21 What Are the Symptoms of Nail Patella Syndrome?

  https://www.icliniq.com/articles/genetic-disorders/nail-patella-syndrome

  Nail patella syndrome is a rare hereditary condition characterized by abnormalities in the nails, knees, elbows, and hip bones. […] It is reported to be a rare disorder with an incidence of 1 in 50,000 people. It is estimated that around 86 % of affected patients inherited the syndrome from their parents with the mutated gene. In 12 % of cases, it arises as a result of new genetic mutations. The children of the affected parents have a 50 % chance of inheriting the disease. […] Nail patella syndrome is a rare genetic disorder with a prevalence of 1:50,000 individuals. […] Eighty-eight percent of NPS patients have an affected parent, while 12 percent of affected people have a de novo pathogenic mutation.

• #22 Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg201577

  NailPatella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. […] We describe the phenotype and the molecular data of 55 index patients and their 39 relatives presenting with typical NPS. […] In our series, 9% of families are not carriers of a LMX1B genomic alteration after extensive study of the coding and non-coding regions of the gene. […] One of the families showed no linkage to the LMX1B locus, raising the hypothesis of a genetic heterogeneity. […] In 9% of the families tested, no alteration was found in LMX1B by the routine screening. […] These patients were not clinically different from the patients harbouring an LMX1B alteration. […] To our knowledge, the hypothesis of a genetic heterogeneity has never been studied in NPS.

• #23 Part III: Nail-Patella Syndrome – JDDonline – Journal of Drugs in Dermatology

  https://jddonline.com/articles/part-iii-nail-patella-syndrome-S1545961615P0085X

  Nail patella syndrome (NPS) (also known as hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease, and nail-patella-elbow syndrome) is an inherited, autosomal dominant disorder that affects the limbs, eyes, kidneys, and nails. It is relatively rare with a prevalence of 1:50,000. […] Renal involvement is present in up to 60% of patients with NPS. Like our patient, many develop hypertension.

• #24 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

  Nail-patella syndrome (NPS) is characterized by developmental defects of dorsal limb structures, nephropathy, and glaucoma and is caused by heterozygous mutations in the LIM homeodomain transcription factor LMX1B. […] Quantitative urinanalysis revealed proteinuria in 21.3% of individuals. […] Interestingly, nephropathy appeared significantly more frequent in females. […] A significant association was established between the presence of clinically relevant renal involvement in an NPS patient and a positive family history of nephropathy. […] This is the first study indicating that family history of nephropathy and mutation location might be important in precipitating individual risks for developing NPS renal disease. […] The prevalence of proteinuria (21.3%) detected by quantitative analysis of a random urine sample is comparable to the frequency (22.3%) demonstrated by dipstick analysis by Sweeney et al.

• #25 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

  The present finding of a female predominance for both proteinuria and microalbuminuria is in contrast with the findings in the general population, where the prevalence of microalbuminuria is about two-fold higher in males. […] A significant association was identified between the presence of nephropathy in NPS patients and a positive family history of renal involvement. […] Individuals with mutations located in the HD of LMX1B showed significant higher frequency of nephropathy and higher values of proteinuria than individuals with mutations located in the LIM domains.

• #26 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 with an estimated incidence of 1 per 50,000 individuals in the United States. […] Nephropathy develops in approximately 30% to 40% of patients and is a major determinant of mortality in these patients. […] Most importantly, physicians should recognize this genodermatosis to implement periodic screenings for renal disease, as up to 40% of NPS patients develop kidney failure.

• #27 Nail-patella syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/nail-patella-syndrome/

  Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals. […] Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.

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

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

  Nail-Patella syndrome (NPS) is a rare genetic disorder that causes abnormalities of bone, joints, fingernails, kidneys, and glaucoma. It is estimated to occur in 1 in 50,000 newborns. […] The treatment for NPS and glaucoma depends upon the severity of each case. Periodic examinations are very important to prevent vision loss.

• #29 Nail-Patella Syndrome | Consultant360

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

  NPS (hereditary onycho-osteodysplasia, iliac horn syndrome, Turner-Keiser syndrome) is an autosomal dominant disorder that affects mainly the fingernails, bone joints, and kidney and occasionally the eyes and skin. It is rarely associated with colon cancer. The prevalence is 1 in 50,000 births. Boys and girls of all ethnic groups are affected equally. When a parent has NPS, each child has a 50% chance of inheriting the disease-causing mutations. New mutations can occur with no family history of the syndrome. […] Patients require regular screening for scoliosis and lordosis. Proteinuria is a common finding. […] Kidney biopsy, radiographs, and ophthalmological evaluation can aid diagnosis. Molecular genetic testing of LMX1B, the only gene known to be associated with NPS, is available on a clinical basis.

• #30 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. […] Nail-patella syndrome, also known as hereditary onychosteodysplasia, is a genetic disorder characterized by nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms. This syndrome is rare, with an incidence of 1/50,000 and is inherited in an autosomal dominant pattern. Apart from the characteristic skeletal problems, renal involvement of the patients requires careful follow-up during pregnancy to avoid complications such as preeclampsia. […] Renal involvement is highly critical in terms of achieving a successful pregnancy because of the risks related to preeclampsia and increased proteinuria.

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

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

  We have presented the case study of a patient with two consecutive successful pregnancies. Our patient had normal renal function with only minimal proteinuria during the pregestational period. 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. […] Despite our patients successful consecutive pregnancies, it is difficult to predict the course of renal function in such pregnancies, and a close follow-up must be performed for every pregnant patient with nail-patella syndrome. The most important prognostic factor seems to be pregestational renal function and abnormalities for pregnancy outcomes and complications, as shown in our case. […] Due to the autosomal dominant inheritance of nail-patella syndrome, prenatal diagnosis is very important for the accurate follow-up of these pregnancies and for prenatal counseling. The syndrome is strictly related with mutations of the LMX1B gene, which provides an opportunity to diagnose affected fetuses via molecular techniques.

• #32 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.

• #33 The nail points to the diagnosis | HKMJ

  https://www.hkmj.org/abstracts/v21n6/573.e3.htm

  The combination of nail dysplasia, patella hypoplasia, and iliac horn led to the clinical diagnosis of nail-patella syndrome (NPS). This syndrome is also known as Fong disease or hereditary osteo-onychodysplasia. It is a rare autosomal dominant disease with a prevalence of about 1 in 50 000 newborn. It is highly penetrant but with significant intra- and inter-familial variability in expression. […] The renal manifestation strongly affects the long-term prognosis. Kidney involvement occurs in 30% to 50% of patients, but kidney failure only occurs in 3% to 5%. Since nephropathy may not develop until later in life, prospective monitoring is essential for all NPS patients. Primary open-angle glaucoma or ocular hypertension occurs in 10% of NPS patients so regular eye surveillance is also warranted. Nail-patella syndrome is an autosomal dominant disorder with a 50% chance of occurrence in offspring, thus genetic counselling is essential. Genetic testing of other at-risk family members, and prenatal and pre-implantation genetic diagnoses are possible only if the disease-causing mutation is known in the index patient.

• #34 Nail-Patella Syndrome – MD Searchlight

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

  Its recommended that patients with NPS and their families consider genetic counseling. […] Its important that they are regularly checked for serious complications that can result from NPS. Specifically, the risk of developing kidney disease (nephropathy) and a serious eye condition that can cause blindness (glaucoma), should be monitored closely.

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

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

  NPS is rare, affecting approximately 1 in 50,000 people worldwide. […] Despite its rarity, early diagnosis and treatment are essential for managing symptoms and preventing complications. […] A family history of Nail-patella syndrome significantly increases the likelihood of developing the condition. […] Since NPS is genetic, individuals with an affected parent or sibling should be aware of the potential for inheritance. […] Regular monitoring of kidney function is essential for individuals with NPS, as early intervention can help manage complications.

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