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Article

Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2012

Provaznikova Dana, Rittich Simon, Malina Michal, Seeman Tomas, Marinov Iuri, Riedl Magdalena, Hrachovinova Ingrid

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Mutations in genes encoding regulators of the alternative complement pathway (CFH, MCP, C3, CFI, CFB, THBD, and CFHR1-5) are connected with this disease. Polymorphisms (SNPs) in these genes might also influence the manifestation of aHUS. We have analyzed the...

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Identifiers

PMID: 21706448
DOI: 10.1007/s00467-011-1943-5

Genes

CFH
CFI
CFB
CFHR1
THBD

Provenance

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