Inherited factor H deficiency and collagen type III glomerulopathy

Pediatr Nephrol. 1995 Feb;9(1):11-5. doi: 10.1007/BF00858956.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Blood Coagulation Disorders / genetics
  • Blood Coagulation Disorders / pathology
  • Blood Coagulation Factors / metabolism
  • Child
  • Collagen / genetics*
  • Collagen / metabolism
  • Collagen Diseases / genetics*
  • Collagen Diseases / metabolism
  • Collagen Diseases / pathology
  • Complement Factor H / analysis
  • Complement Factor H / deficiency*
  • Complement System Proteins / metabolism
  • Glomerulonephritis / genetics*
  • Glomerulonephritis / metabolism
  • Glomerulonephritis / pathology
  • Humans
  • Kidney / pathology
  • Male

Substances

  • Blood Coagulation Factors
  • CFH protein, human
  • Complement Factor H
  • Collagen
  • Complement System Proteins