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Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.

Abstract
Acute poststreptococcal glomerulonephritis is a common cause of acute nephritis in children. Transient hypocomplementemia and complete recovery are typical, with only a minority developing chronic disease. We describe a young girl who developed persistent kidney disease and hypocomplementemia after a streptococcal throat infection. Kidney biopsy 1 year after presentation showed isolated glomerular complement C3 deposition, membranoproliferative changes, and subendothelial, intramembranous and occasional subepithelial electron-dense deposits consistent with C3 glomerulopathy. Complement gene screening revealed a heterozygous single nucleotide insertion in exon 4 of the complement factor H-related protein 5 gene (CFHR5), resulting in a premature stop codon. This variant was not detected in 198 controls. Serum CFHR5 levels were reduced. The mother and sister of the index patient were heterozygous for the sequence variant, with no overt evidence of kidney disease. We speculate that this heterozygous CFHR5 sequence variant is a risk factor for the development of chronic kidney disease after streptococcal infection.
AuthorsKatherine A Vernon, Elena Goicoechea de Jorge, Angela E Hall, Veronique Fremeaux-Bacchi, Timothy J Aitman, H Terence Cook, Robert Hangartner, Ania Koziell, Matthew C Pickering
JournalAmerican journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 60 Issue 1 Pg. 121-5 (Jul 2012) ISSN: 1523-6838 [Electronic] United States
PMID22503529 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.
Chemical References
  • CFHR5 protein, human
  • Complement C3
  • Complement System Proteins
Topics
  • Child
  • Chronic Disease
  • Complement C3 (analysis)
  • Complement System Proteins (analysis, deficiency, genetics)
  • Female
  • Frameshift Mutation
  • Glomerulonephritis, Membranoproliferative (epidemiology, etiology, genetics, pathology)
  • Heterozygote
  • Humans
  • Kidney (pathology)
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Sequence Analysis, Protein
  • Streptococcal Infections (complications, immunology)

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