Materiały źródłowe

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

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

  Nail-patella syndrome (NPS) can be clinically diagnosed with the characteristic physical exam and radiological imaging findings, although genetic testing and even renal biopsy assist in diagnosis confirmation. […] 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. […] Radiography plays an important role in diagnosing NPS with most of the conditions musculoskeletal characteristics evident on radiographs. The knee will demonstrate a small or absent patella in addition to various morphological abnormalities of the femoral condyles and trochlea. […] Despite the well-documented phenotype of patients with nail-patella syndrome, this rare genetic condition can make for a challenging diagnosis as there are potentially multiple clinical manifestations, and diagnosis can be delayed into adulthood.

• #1 Nail-Patella Syndrome

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

  This 33-year-old Guatemalan man presented to a medical mission camp with generalized bilateral knee pain and inability to extend his leg without pain. […] The diagnosis of nail-patella syndrome is based on clinical manifestations, which vary in frequency and severity and between family members: […] The nails are absent or dystrophic in 80% to 90% of patients. […] Patellae may be small, irregularly shaped, or asymmetric. They are absent or hypoplastic in 60% of patients. […] Abnormalities of the elbow are rare but may result in limited motion. […] Half of patients have back pain. […] The first sign of renal involvement is usually proteinuria, with or without hematuria (in 30% to 50% of patients). […] Primary open-angle glaucoma and ocular hypertension develop more frequently in patients with nail-patella syndrome and at a younger age than in the general population.

• #1 Nail-Patella Syndrome | Consultant360

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

  The diagnosis of nail-patella syndrome is based on clinical manifestations, which vary in frequency and severity and between family members: […] The nails are absent or dystrophic in 80% to 90% of patients. Affected nails can be hypoplastic, ridged longitudinally or horizontally, pitted, or discolored. Nail changes may be observed at birth and are most often bilateral and symmetric. […] Patellae may be small, irregularly shaped, or asymmetric. They are absent or hypoplastic in 60% of patients. Recurrent subluxation or dislocation of the patella is common, causes significant pain, and may be associated with poor development of the vastus medialis muscle. […] The iliac bone may have horns or spurs, which are only detected radiographically. This finding is pathognomonic for nail-patella syndrome.

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

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

  Nail-patella syndrome, also known as Fong disease, is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities. […] Diagnostic radiographic findings include: […] The bilateral posterior iliac horns, due to exostoses arising from the posterior aspect of the iliac bones, are present in up to 80%; this finding is considered pathognomonic for the syndrome. […] 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.

• #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. […] Nail findings (eg, triangular lunulae) may be the first clue to NPS and should prompt investigation of associated renal, ocular, neurologic, skeletal, and orthopedic abnormalities. […] Given the constellation of examination findings and positive family history, a diagnosis of NPS was made. […] Nail findings may be the first clue to the need for additional screenings 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.

• #1 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. […] Genetic testing should demonstrate a mutation in the LMX1B gene. […] The differential diagnosis for nail patella syndrome would include other genetic syndromes that most prominently affect the knees and nails. […] While these syndromes have abnormal nails, nail patella syndrome may be separated by the presence of the characteristic triangular lunulae. […] Since nail patella Syndrome is transmitted in an autosomal dominant fashion, those with affected family members are at risk. […] The LMX1B gene is mutated in nail patella syndrome. […] The most serious issue that can be lethal in nail patella syndrome is renal failure. […] In the study of 123 patients with the syndrome, the mean age that renal involvement was detected was 21.7 years, and renal failure occurred in 3% of patients.

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

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

  NPS can be clinically diagnosed with the characteristic physical exam and radiological imaging findings, although genetic testing and even renal biopsy assist in diagnosis confirmation. […] 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. […] Radiography plays an important role in diagnosing NPS with most of the conditions musculoskeletal characteristics evident on radiographs. The knee will demonstrate a small or absent patella in addition to various morphological abnormalities of the femoral condyles and trochlea. […] One case report described the presence of a midline band of synovial tissue or plicae located within the intercondylar notch clearly seen on MRI but not on plain films. […] Bilateral iliac horns can be seen on radiographs of the pelvis and, when present, are considered pathognomonic.

• #1 Nail-patella syndrome | Radiology Case | Radiopaedia.org

  https://radiopaedia.org/cases/nail-patella-syndrome-8?lang=us

  Nail-patella syndrome (synonyms: Fongs disease, Trauner-Rieger syndrome) is a rare autosomal dominant condition. Clinically the key feature is absent/hypoplastic nails from birth. […] Diagnostic radiographic findings include the following: absent/hypoplastic patellae (with a tendency to recurrent dislocation) […] bilateral posterior iliac horns (due to exostoses arising from the posterior aspect of the iliac bones are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome)

• #1 Nail-Patella Syndrome – MD Searchlight

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

  Diagnosis of NPS usually involves an examination of the physical symptoms and reviewing X-ray images, although genetic testing and kidney biopsy (a procedure where a small piece of kidney tissue is removed for examination) can help confirm the diagnosis. […] Imaging tests, like X-rays and MRI scans, are also crucial in diagnosing Nail-patella syndrome. This is primarily because the condition often results in specific bone and muscle changes that show up these scans. For example, the kneecap can appear small or even absent, along with other changes to specific areas of the thigh bone. […] A case has been reported where a specific tissue in the knee was clearly visible on an MRI scan but not on an X-ray. There could also be tell-tale signs in X-rays of the pelvis, like the presence of iliac horns (bony spurs on the pelvis), which is considered a definite sign of Nail-patella syndrome.

• #1 Nail-Patella Syndrome: Symptoms & Causes

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

  Nail-patella syndrome is a genetic condition that affects your childs nails, bones, eyes and kidneys. It changes how these parts look and/or function. […] Healthcare providers diagnose this condition by doing some or all of the following: A physical exam to look for features like nail changes and bone changes, Imaging tests, like X-rays, CT scans and MRIs, to examine bones more closely, Blood and/or pee (urine) tests to check kidney function, A kidney biopsy to look for tissue changes typical of nail-patella syndrome, Genetic testing to look for gene variants. […] The features of nail-patella syndrome often appear early in life. But some people go years without a diagnosis due to mild symptoms or subtle signs. Providers diagnose this condition in children and adults of all ages.

• #1

  https://www.omim.org/entry/161200

  A number sign (#) is used with this entry because of evidence that nail-patella syndrome (NPS) is caused by heterozygous mutation in the LIM-homeodomain protein LMX1B (602575) on chromosome 9q33. […] Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by developmental defects of dorsal limb structures, the kidney, and the eye, manifested by nail dysplasia, patellar abnormalities, elbow dysplasia, iliac horns, nephropathy, and glaucoma, respectively (summary by Bongers et al., 2005). […] Dysplasia of the nails and absent or hypoplastic patellae are the cardinal features but others are iliac horns, abnormality of the elbows interfering with pronation and supination, and in some cases nephropathy. […] The transmission pattern of NPS in the families reported by Vollrath et al. (1998) was consistent with autosomal dominant inheritance. […] Feingold et al. (1998) reported the use of ultrasound in third-trimester diagnosis of NPS. […] Feingold et al. (1998) considered prenatal diagnosis of NPS worthwhile because of the substantial risk for kidney disease and other associated malformations.

• #1 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 diagnosis is based on clinical findings. Molecular test can identified the LMX1B gene mutations in around 95% of the cases, thus helping to confirm the clinical diagnosis or cases where clinical signs and symptoms are not clear. […] Prenatal diagnosis is possibile when there is a positive familiar history for the disorder. Some skeletal signs (ie, talipes equinovarus or large iliac horns) may be identified on fetal ultrasound examination in the third trimester of pregnancy. When the disease-causative variant is found in the affected individual of the family, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.

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

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

  Nail-patella syndrome (NPS) is an autosomal dominant condition characterized by the classical clinical tetrad of nail dysplasia, patellar aplasia-hypoplasia, elbow arthrodysplasia, and iliac horns. The nails may be absent, hypoplastic, or dystrophic with ridges, pits, and/or triangular lunulae. […] LMX1B sequencing is diagnostic in the majority of patients. LMX1B mutations in exons 2-6 can be found via DNA sequencing in 80-85% of patients with nail-patella syndrome, and an additional 5% can be picked up with deletion and duplication analysis. […] Renal biopsy – May be indicated after referral to nephrologist for evaluation of progressive renal insufficiency, proteinuria, and hypertension in nail-patella syndrome. […] Angiotensin-converting enzyme (ACE) inhibitors for proteinuria, hypertension, or both are indicated in patients with nail-patella syndrome.

• #1 Nail patella syndrome | nidirect

  https://www.nidirect.gov.uk/conditions/nail-patella-syndrome

  Nail patella syndrome is usually diagnosed based on your or your child’s symptoms. In most cases, a blood test to check for the faulty gene can confirm the diagnosis. […] In about 5 per cent of people diagnosed with nail patella syndrome, a fault in the LMX1B gene can’t be found.

• #1 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. […] In the present study, we describe the phenotype and molecular data of 55 index patients and their 39 relatives affected with NPS. Variants or large rearrangements of LMX1B were identified in 91% of patients. […] 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. […] The hypothesis of a genetic heterogeneity has never been studied in NPS.

• #1 The nail points to the diagnosis | HKMJ

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

  A skeletal survey was performed in view of his skeletal complaint. […] The combination of nail dysplasia, patella hypoplasia, and iliac horn led to the clinical diagnosis of nail-patella syndrome (NPS). […] The diagnosis of NPS is usually based on clinical findings. It is straightforward when the classic tetrad of abnormal nails, elbows, knees, and iliac horns are present. […] Nonetheless molecular genetic testing should be considered when the diagnosis is in doubt, or when prenatal or pre-implantation diagnosis is desired. […] LMX1B gene sequencing was performed for this patient and revealed a missense mutation LMX1B NM_002316.3}:c.[175TC];[=];LMX1B{NP _002307.2}:p.[Cys59Arg];[=]. […] 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.

• #1 Nail-Patella Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/nail-patella-syndrome

  Nail-patella syndrome is a rare hereditary disorder that results in abnormalities of the kidneys, bones, joints, toenails, and fingernails. […] The diagnosis of nail-patella syndrome is suggested by the symptoms and results of a physical examination. The diagnosis is confirmed by bone x-rays and a biopsy of kidney tissue (removal of a tissue sample for examination under a microscope). Genetic testing also may be done. […] People who have blood or protein in their urine may undergo kidney function tests.

• #1 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. […] Early diagnosis and follow up is important for successful treatment. Because of the infrequency of this syndrome presentation, its signs and symptoms are often overlook. […] 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). […] The first sign of renal disease as a result of NPS is proteinuria. Proteinuria in NPS can occur at any age from birth and it varies greatly among people.

• #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. […] He was evaluated using history, orthopedic and neurologic examination, and x-ray. […] X-rays revealed agenesis of the patella. […] Early detection from portal-of-entry physicians may help improve patient health outcomes when appropriate diagnosis and referral is used. […] Diagnosing those with milder symptoms can be difficult with little information. […] It is important to try to rule out or in as many diagnoses per patient as possible. […] Chiropractors are in a great position to help diagnosis this condition since they focus on whole-body dysfunction and the root cause of patient symptomatology. […] Imaging showed the aplastic patella on the right. This finding, with the family history of early onset glaucoma, ADHD, and fathers problematic elbow joint restrictions led us to the diagnosis of NPS.

• #1 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. […] Prenatal diagnosis of nail-patella disease is also challenging due to several possible mutations and a wide range of phenotypes of the disease. Ultrasonographic examination findings may be suspicious for the disease in the fetus like patellar hypoplasia or joint contractures. […] 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.

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

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

  Diagnosis can occur at birth, in early childhood, or later in life. […] To diagnose the condition, a doctor will need to: […] order advanced imaging techniques […] order laboratory testing. […] Imaging technologies such as X-rays and CT scans can help a doctor identify bone and joint irregularities. […] Genetic testing for changes to the LMX1B gene can help confirm the diagnosis. […] 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. […] People may attribute the symptoms to other, more common conditions. […] Limited information is available about the condition.

• #1 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. […] While there is no cure, many individuals with NPS can lead healthy, fulfilling lives with appropriate care. […] Early diagnosis and treatment are crucial for managing symptoms and preventing complications.

• #1 Nail–patella syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Nail%E2%80%93patella_syndrome

  Diagnosis of NPS can be made at birth but is common for it to remain undiagnosed for several generations. […] The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Sometimes, this disease causes the affected person to have either no thumbnails or a small piece of a thumbnail on the edge of the thumb. The lack of development or complete absence of fingernails results from the loss of function mutations in the LMX1B gene. This mutation may cause a reduction in dorsalising signals, which then results in the failure to normally develop dorsal specific structures such as nails and patellae.

• #1 Frequently Asked Questions

  http://www.npsw.org/index.php/faq

  How is NPS diagnosed? Diagnosis of NPS is most often made by a Clinical Geneticist – a physician trained to recognise, diagnose and treat rare disorders like NPS that are due to gene mutations. Many orthopaedists and nephrologists may also be familiar with NPS. There is no routine laboratory test for NPS. A geneticist may choose to send a blood sample for DNA analysis to confirm the diagnosis. Patients cannot contact testing labs directly. Almost all teaching hospitals will have a clinical genetics practice where you can make an appointment. You can also use this link to find the closest genetic counselor: http://www.nsgc.org/zip_search/index.cfm […] How can I detect kidney impairment if it occurs? Routine urine tests should be conducted on at least an annual basis. Ask your physician to monitor blood and protein levels in the urine. Home testing kits are now available in some pharmacies. If protein is detected in the urine, see your physician. If renal impairment is detected, you will probably be referred to a Nephrologist (kidney specialist). Occasionally a kidney biopsy is necessary to detect the degree of kidney impairment.

• #1 Nail patella syndrome

  https://health-shared.com/topics/nail-patella-syndrome-1534060409434

  Nail patella syndrome is usually diagnosed based on your or your child’s symptoms. In most cases, a blood test to check for the faulty gene can confirm the diagnosis. […] In about 5% of people diagnosed with nail patella syndrome, a fault in the LMX1B gene can’t be found. […] 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. […] Later on, your urine and blood pressure should be tested every year. […] Kidney problems may occur during (or be made worse by) pregnancy in women who have nail patella syndrome. […] 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. […] If you have severe kidney disease, you may need a kidney transplant.

• #1 Retrospective Diagnosis of Nail-patella Syndrome – Indian Journal of Nephrology

  https://indianjnephrol.org/retrospective-diagnosis-of-nail-patella-syndrome/

  A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). […] It was only when the genetic analysis was done that NPS was suspected and confirmed on clinical and radiological evaluation. […] The genetic study revealed mutation in exon 2 of the LMX1B gene which is known to be associated with NPS. […] It is known that pathologic findings are largely unrelated to the clinical severity or prognosis. […] The diagnosis of NPS was made only when genetic analysis showed mutation in LXMB1 gene. […] Clinical manifestations of NPS are extremely variable in both frequency and severity and there is inter and intrafamilial variability. […] Patients with nail patella syndrome do well after kidney transplant and it should be the renal replacement modality of choice if they develop end stage kidney disease.

• #1 SciELO Brazil – Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding* Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding*

  https://www.scielo.br/j/abd/a/vHQNkSMVTD49WxBJ86vJR4G/

  The diagnosis of nail-patella syndrome is based on clinical findings. […] Its diagnosis is purely clinical, with the possibility of genetic testing for LMX1B mutation. […] Therefore, the early identification of NPS is fundamental to initiate the screening and management of these complications, since this is a disease without cure. […] In the case reported, the dermatological finding of the triangular lunula, pathognomonic of the syndrome in question, made it possible the confirmatory investigation of the disease, the clarification of the symptoms to the patient and the approach that should be performed from this diagnosis.

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

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

  Nail-patella syndrome (NPS) […] The diagnosis of nail-patella syndrome is established in a proband with suggestive findings and/or a heterozygous pathogenic variant in LMX1B identified by molecular genetic testing. […] Formal clinical diagnostic criteria for nail-patella syndrome (NPS) have not been published, although iliac horns (bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis) are considered pathognomonic. […] The diagnosis of NPS is established in a proband with suggestive findings and/or a heterozygous pathogenic (or likely pathogenic) variant in LMX1B identified by molecular genetic testing. […] Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype. […] If targeted genetic testing or exome sequencing are not diagnostic, but NPS is clinically suspected and a dominant inheritance pattern is observed, karyotype may be considered.

• #2 Nail-patella Syndrome | HNL Lab Medicine

  https://www.hnl.com/test-directory/nail-patella-syndrome/5231

  This disorder is caused by loss of function mutations in LMX1B. The LMX1B gene codes for a homeodomain protein containing two N-terminal zinc binding protein domains and a C-terminal glutamine rich domain. This transcription factor plays an important role in dorsal-ventral patterning of the limb. It controls the initial trajectory of motor axons in the developing limb. It is also believed to regulate the expression of the COL4A3 and COL4A4 genes required for normal glomerular basement membrane morphogenesis.

• #2 Nail patella syndrome

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

  In the case presented here, the patient reported evidence of proteinuria in the nephrotic range, with a protein/creatinine ratio of 3.5 based on a random urine sample. Estimated glomerular filtration rate was 13 ml/min/1.73m2 corresponding to stage V of chronic kidney disease (CKD) according to National Kidney Foundation Disease Outcomes Quality Initiative (KDOQI) classification. […] Due to the patient’s advanced kidney disease, a biopsy was not performed. Normochromic normocytic anemia, metabolic acidosis, hyperkalemia and hyperphosphatemia were all clear signs of ESRD due to NPS in our patient. […] 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.

• #2 Nail-Patella Syndrome

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

  The iliac bone may have horns or spurs, which are only detected radiographically. This finding is pathognomonic for nail-patella syndrome. […] 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.

• #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/

  Interventions will depend on the severity of the different organ systems affected. […] 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, ophthalmology, and orthopedics.

• #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

  Diagnostic criteria have not been published for NPS. […] Early intervention has also seen to be beneficial in a study that looked at the social and emotional impact NPS can have on individuals as well as the measures were taken for early detection of eye and kidney issue developments. […] This case report only demonstrated the mild symptoms present with NPS. […] Since NPS is a genetic disorder with an array of possible presentations, this report shows only management and referral to guide patients in monitoring possible disease processes, as well as steps to take for preventive care. […] Early detection from a portal-of-entry physician was a valuable tool in helping a patient and his family manage NPS.

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

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

  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.

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