Diagnostic Progress in Familial Nephropathy: Alport's Syndrome, Nail-patella Syndrome and Benign Familial Hematuria

Abstract

Progress in the field of morphology and new insights in human genetics, have led to the early diagnosis of hereditary nephropathy in growing number of cases. Light microscopic findings are not specific. Using electron microscopy, however, cases with primary lesions of the peripheral glomerular basement membrane (Alport's syndrome, benign familial hematuria, nail-patella syndrome) exhibit pathognomonic morphologic changes even in early stages of the disease. Electron microscopy is thus the only effective diagnostic method in suspicious cases.