Factor H gene abnormalities in HUS

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Complement factor H gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene.” (PLoS Med. 2006 Oct;3(10):e432 ). Authors are Noris M and Remuzzi G, from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Dacco, Transplant Research Center, Ranica, Bergamo, Italy. A typical haemolytic uraemic syndrome (HUS) is a rare disease involving haemolytic anaemia, thrombocytopenia, and renal failure. There is growing evidence that the disease is associated with defective control of the alternative pathway of complement. Genetic abnormalities in complement regulatory proteins, including complement factor H (CFH), membrane cofactor protein, and complement factor I, have been reported in 30%, 10%, and 5% of patients with HUS, respectively. CFH is a plasma protein produced by the liver that acts as a central regulator in the alternative pathway of complement activation. The gene encoding CFH is situated, together with genes for five factor H-related proteins (CFHL1–5), within the regulator of complement activation (RCA) gene cluster at chromosome position 1q32. Identification of the specific genetic defect in patients with HUS could enhance diagnostic precision, predict clinical outcomes, and translate into improved management of the disease. To access the full abstract of the article, click here.