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Nail Patella Syndrome (Onychoosteodysplasia)- Causes, Symptom, Cure, Treatment of Nail Patella Syndrome
What is Nail Patella Syndrome
(Onychoosteodysplasia)?
Nail-patella syndrome is a rare inherited condition characterized by the tetrad of dysplastic nails, hypoplastic or absent patellae, radial head dislocations, and iliac horns. It has a truly bewildering range of pseudonyms including hereditary onychoosteodysplasia (HOOD), Fong's syndrome, and Turner-Keiser syndrome. Nail-patella syndrome is an autosomal dominant condition which presents with triangular rather than half-moon shaped lunulae, especially of the thumb and forefingers.
Although patients with Nail-patella syndrome are rarely seen in ESRD programs, the prevalence has been estimated at 4.5 per million in the United States and 22 per million in the United Kingdom. The condition maps to 9q34.3, which is the site of the LMX1B gene. LMX1B codes for Lmx1b, a member of the LIM homeodomain protein family that is essential for limb differentiation in vertebrates. Normal limb development requires two normal genes. A mutation that impairs the function of one LMX1B gene results in Nail-patella syndrome; that is to say haploinsufficiency of LMX1B produces the clinical syndrome
Diagnosis of Nail Patella Syndrome
Typical Nail patella syndrome is readily recognized clinically. If doubt remains, radiographs of the knees and pelvis usually show absent, rudimentary, or deformed patellae and bilateral iliac horns.
Renal biopsy is rarely required to make the diagnosis of Nail-patella syndrome. It may be justified in patients with atypical disease and in patients with evidence of nephropathy because of the apparently high incidence of other and potentially treatable renal disorders in Nail-patella syndrome patients.
Treatment of Nail Patella Syndrome
As long as we cannot correct the molecular defect of Nail patella syndrome, treatment for all aspects is supportive. Orthopedic surgery to relieve contractures and to fuse or realign joints confers major benefits. Knee, ankle, and foot surgery is frequently helpful, whereas elbow surgery is rarely needed. Treatment of renal insufficiency is along general lines and hemodialysis, peritoneal dialysis, and transplantation have been carried out successfully. In three patients who have had biopsy of the allograft, there was no evidence of recurrence or Nail patella syndrome lesions or of anti-GBM nephritis. Most intriguing, in a single patient nail lesions appeared to improve after transplantation.
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