Nail-patella syndrome.
Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to have proteinuria and renal insufficiency. The changes on electron microscopy were identical to those observed in nail-patella syndrome, a rare hereditary disease with ectodermal and mesodermal involvement, manifested as bony and nail abnormalities. Nephropathy is now a well established part of this syndrome. Our cases did not have the typical bony and nail changes. We feel these three cases represent a partial gene penetrance or manifestation of only a portion of gene complex involved in this syndrome.
D000293:Adolescent; D000328:Adult; D001485:Basement Membrane / Q000473:pathology; D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology*; D007674:Kidney Diseases / Q000150:complications / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009261:Nail-Patella Syndrome / Q000150:complications / Q000473:pathology*