[The nail-patella syndrome: rare genetically determined cause of proteinuria].
Nail-patella syndrome (NPS) is rare genetic disorder with autosomal mode of inheritance resulting from mutations in the LMX1B gene mapped on the long arm of chromosome 9 (9q34), encoding transcription factor, also named LMX1B. This syndrome is characterized by a skeletal malformations, such as dysplasia of the knees (with typical patellar hypoplasia or aplasia), elbows and nails as well as characteristic protuberaces of ilium named ,,iliac homes". Chronic nephropathy and nails dysplasia are most common extraosseal signs of NPS. Familial, genetic proved (missense mutation -G599A (R200Q) case of NPS in the mother and her son was presented. Clinical features characteristic for this syndrome and observed in both our patients were compared to the data published previously.
Zarzecki
Miłosz
M
Katedra i Klinika Nefrologii, Endokrynologii i Chorób Przemiany Materii Slaskiego Uniwersytetu Medycznego w Katowicach.
Nieszporek
Teresa
T
Chudek
Jerzy
J
Wiecek
Andrzej
A
D000293:Adolescent; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins; D006801:Humans; D060850:LIM-Homeodomain Proteins; D008297:Male; D009261:Nail-Patella Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011507:Proteinuria / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography; D014157:Transcription Factors
D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors