PubMed:9848786 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9848786","sourcedb":"PubMed","sourceid":"9848786","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9848786","text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic 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