Webbläsaren som du använder stöds inte av denna webbplats. Alla versioner av Internet Explorer stöds inte längre, av oss eller Microsoft (läs mer här: * https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Var god och använd en modern webbläsare för att ta del av denna webbplats, som t.ex. nyaste versioner av Edge, Chrome, Firefox eller Safari osv.

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome

In English

Författare

  • Frank Bienaime
  • Marie-Agnes Dragon-Durey
  • Catherine H. Regnier
  • Sara Nilsson
  • Wing H. Kwan
  • Jacques Blouin
  • Mathieu Jablonski
  • Nicolas Renault
  • Marie-Anne Rameix-Welti
  • Chantal Loirat
  • Catherine Sautes-Fridman
  • Bruno O. Villoutreix
  • Anna Blom
  • Veronique Fremeaux-Bacchi
Visa allt

Summary, in English

Genetic studies have shown that mutations of complement inhibitors such as membrane cofactor protein, Factors H, I, or B and C3 predispose patients to atypical hemolytic uremic syndrome (aHUS). Factor I is a circulating serine protease that inhibits complement by degrading C3b and up to now only a few mutations in the CFI gene have been characterized. In a large cohort of 202 patients with aHUS, we identified 23 patients carrying exonic mutations in CFI. Their overall clinical outcome was unfavorable, as half died or developed end-stage renal disease after their first syndrome episode. Eight patients with CFI mutations carried at least one additional known genetic risk factor for aHUS, such as a mutation in MCP, CFH, C3 or CFB; a compound heterozygous second mutation in CFI; or mutations in both the MCP and CFH genes. Five patients exhibited homozygous deletion of the Factor H-related protein 1 (CFHR-1) gene. Ten patients with aHUS had one mutation in their CFI gene (Factor I-aHUS), resulting in a quantitative or functional Factor I deficiency. Patients with a complete deletion of the CFHR-1 gene had a significantly higher risk of a bad prognosis compared with those with one Factor I mutation as their unique vulnerability feature. Our results emphasize the necessity of genetic screening for all susceptibility factors in patients with aHUS. Kidney International (2010) 77, 339-349; doi: 10.1038/ki.2009.472; published online 16 December 2009

Publiceringsår

2010

Språk

Engelska

Sidor

339-349

Publikation/Tidskrift/Serie

Kidney International

Volym

77

Issue

4

Dokumenttyp

Artikel i tidskrift

Förlag

Nature Publishing Group

Ämne

  • Urology and Nephrology

Nyckelord

  • hemolytic and
  • complement Factor I
  • alternative pathway
  • complement
  • uremic syndrome
  • thrombotic microangiopathy

Status

Published

Forskningsgrupp

  • Clinical Chemistry, Malmö
  • Protein Chemistry, Malmö

ISBN/ISSN/Övrigt

  • ISSN: 1523-1755