Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria.
Alport syndrome (AS) and benign familial hematuria (BFH) are inherited disorders of the glomerular basement membrane, which are sometimes difficult to differentiate at the early stage without type IV collagen staining of the renal basement membrane. Previous studies have indicated that mutation of type IV collagen alpha4 gene may be responsible for both BFH and AS. We report here a Japanese family with consanguinity, in which autosomal-recessive AS and BFH were separately identified in two brothers on the basis of findings of electron microscopy and type IV collagen chain staining of the renal biopsy specimens. Their parents, being first cousins, paternal uncle and grandmothers were found to have hematuria. Our observations suggest that BFH patients were heterozygous carriers of autosomal-recessive AS.
Takemura
T
T
Department of Pediatrics, Kinki University School of Medicine, Osaka, Japan. tsukasa@med.kindai.ac.jp
Yanagida
H
H
Yagi
K
K
Moriwaki
K
K
Okada
M
M
D001485:Basement Membrane / Q000473:pathology; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D003241:Consanguinity; D005808:Genes, Recessive; D008040:Genetic Linkage; D006417:Hematuria / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree
D003094:Collagen