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Article

Hemolytic uremic syndrome due to homozygous factor H deficiency.

Clinical and experimental nephrology - 1 Oct 2009

Sethi Sidharth Kumar, Marie-Agnes Dragon-Durey, Thaker Neelam, Hari Pankaj, Bagga Arvind

Abstract excerpt

The majority of complement factor H mutations associated with atypical hemolytic uremic syndrome (HUS) are heterozygous. Homozygous mutations causing atypical hemolytic uremic syndrome are rare. We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor...

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Identifiers

PMID: 19568827
DOI: 10.1007/s10157-009-0205-3

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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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