Kavanagh David, Goodship Timothy H J, Richards Anna
Washington University School of Medicine, St Louis, MO 63110, USA.
Br Med Bull. 2006;77-78:5-22. doi: 10.1093/bmb/ldl004. Epub 2006 Sep 11.
The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated or non-diarrhoeal/atypical (aHUS). aHUS has recently been shown to be a disease of complement dysregulation, with 50% of cases involving the complement regulatory genes, factor H (CFH), membrane cofactor protein (MCP; CD46), and factor I (IF). However, incomplete penetrance of mutations in each of these genes is reported. This suggests that a precipitating event or trigger is required to unmask the complement regulatory deficiency. The reported precipitating events predominantly cause endothelial injury. Discovery of these mutations has revealed important genotype-phenotype correlations. MCP-HUS has a better prognosis and a better outcome after transplantation than either CFH-HUS or IF-HUS.
溶血尿毒综合征（HUS）的特征是血小板减少、微血管病性溶血性贫血和急性肾衰竭三联征。HUS可分为腹泻相关性或非腹泻性/非典型性（aHUS）。最近研究表明，aHUS是一种补体调节异常的疾病，50%的病例涉及补体调节基因，即H因子（CFH）、膜辅助蛋白（MCP；CD46）和I因子（IF）。然而，据报道这些基因中每个基因的突变外显率均不完全。这表明需要一个促发事件或触发因素来揭示补体调节缺陷。报道的促发事件主要导致内皮损伤。这些突变的发现揭示了重要的基因型-表型相关性。与CFH-HUS或IF-HUS相比，MCP-HUS的预后更好，移植后的结局也更好。
