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  • Title: An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred.
    Author: Salcedo JR.
    Journal: Am J Med Genet; 1984 Nov; 19(3):579-84. PubMed ID: 6507504.
    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.
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