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Article

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2012

Geerdink Lianne M, Westra Dineke, van Wijk Joanna A E, Dorresteijn Eiske M, Lilien Marc R, Davin Jean-Claude, Kömhoff Martin, Van Hoeck Koen, van der Vlugt Amerins, van den Heuvel Lambertus P, van de Kar Nicole C A J

Abstract excerpt

BACKGROUND: Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (αFH) with or without a homozygous deletion in CFH-related protein 1 and 3 (∆CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS). METHODS: Different mutations in genes encoding complement proteins in 45...

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Source

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Identifiers

PMID: 22410797
DOI: 10.1007/s00467-012-2131-y
PMCID: PMC3382652

Genes

CFH
CFHR1
CFB
CFI
THBD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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