Focal segmental glomerular sclerosis in three generations of a single family.
We studied members of three generations of a family presenting a nephropathy characterized by proteinuria, occasional microscopic hematuria, progressive deterioration of renal function and an autosomic dominant hereditary pattern. In seven percutaneous needle biopsies, examination by light microscopy showed findings compatible with Focal Segmental Glomerulosclerosis (FSGS) in six patients and Focal Global Glomerulosclerosis (FGG) in one case. Deposits of immunoglobulins IgM, IgA and C3 following mesangial and peripheral distribution were observed. According to electron microscopy, the basal membrane was unchanged though electron dense deposits were found at subendothelial, subepithelial and mesangial locations.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005455:Fluorescent Antibody Technique; D005799:Genes, Dominant; D005921:Glomerulonephritis / Q000235:genetics*; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree