[Hereditary onycho-osteo-arthrodysplasia (nail-patella syndrome) with progressive renal failure].
A case of a fully developed hereditary onycho-osteo-arthrodysplasia (nail-patella syndrome) is presented. The typical signs, such as the iliac horns or variations of the knees, cubitals and nails should be familiar to every radiologist. The associated nephropathy seems to be caused by typical changes in the glomerular basement membrane seen in electron microscopy. Asymptomatic proteinuria is found in about 60% of the cases, in 5.5-8% the disease leads to the necessity of haemodialysis because of renal insufficiency. Hence, early diagnosis is very important.
Stellamor
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Zentralröntgeninstitut Krankenanstalt Rudolfstiftung der Stadt Wien.
Anzböck
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D000328:Adult; D002899:Chromosomes, Human, Pair 9; D005799:Genes, Dominant; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics*; D008297:Male; D009261:Nail-Patella Syndrome / Q000235:genetics*
Die hereditäre Onycho-Osteo-Arthrodysplasie (Nagel-Patella-Syndrom) mit progredientem Nierenversagen.