title: An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred.
abstract: We present a 9-year-old boy, the product of a consanguineous marriage, with proteinuria, edema, and microscopic hematuria with mild renal impairment since age 2 yr. Renal biopsy showed the histopathologic electron microscopic changes seen in hereditary osteo-onchyodysplasia (HOOD) [Hoyer et al, 1972; Bennet et al, 1973; DelPozo and Lapp 1970; Vernier et al, 1974; Morita et al, 1973] or "nail-patella syndrome." Neither the patient nor his relatives had bone or nail abnormalities; however, 2 other sibs had died of complications of end-stage renal disease at age 6 and 9, leading us to suspect autosomal recessive inheritance of a severe nephropathy or glomerulodysplasia.
mesh_terms: D001485:Basement Membrane / Q000648:ultrastructure; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D007678:Kidney Glomerulus / Q000002:abnormalities*; D008297:Male; D009261:Nail-Patella Syndrome / Q000235:genetics*