Inherited factor H deficiency and collagen type III glomerulopathy.
A non-immune complex-mediated glomerulonephritis associated with persistent hypocomplementemia occurred in a young boy. Measurement of complement components revealed complete factor H deficiency, inherited as an autosomal recessive trait. Evaluation of the renal lesion revealed extensive deposition of type III collagen suggestive of collagen type III glomerulopathy, a recently identified cause of chronic renal insufficiency in children and adults. This report represents the first association of inherited factor H deficiency with collagen type III glomerulopathy.
Vogt
B A
BA
Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OH 44106, USA.
Wyatt
R J
RJ
Burke
B A
BA
Simonton
S C
SC
Kashtan
C E
CE
D001778:Blood Coagulation Disorders / Q000235:genetics / Q000473:pathology; D001779:Blood Coagulation Factors / Q000378:metabolism; D002648:Child; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D003095:Collagen Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017242:Complement Factor H / Q000032:analysis / Q000172:deficiency*; D003165:Complement System Proteins / Q000378:metabolism; D005921:Glomerulonephritis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male
D001779:Blood Coagulation Factors; C493495:CFH protein, human; D017242:Complement Factor H; D003094:Collagen; D003165:Complement System Proteins