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  • Title: Nail-patella syndrome.
    Author: Sabnis SG, Antonovych TT, Argy WP, Rakowski TA, Gandy DR, Salcedo JR.
    Journal: Clin Nephrol; 1980 Sep; 14(3):148-53. PubMed ID: 7418282.
    Abstract:
    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.
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