Atypical haemolytic uraemic syndrome
Atypical haemolytic uraemic syndrome
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DOI：
10.1093/bmb/ldl004
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发表时间：
2006-01-01
影响因子：
6.7
通讯作者：
Richards, Anna
中科院分区：
文献类型：
--
作者：
Kavanagh, David;Goodship, Timothy H. J.;Richards, Anna
溶血性尿毒综合征（HUS）的特点是血小板减少症、微血管病溶血性贫血和急性肾功能衰竭。溶血性尿毒综合征可分为腹泻相关型和非腹泻/非典型型。aHUS最近被证明是一种补体失调疾病，50%的病例涉及补体调节基因、因子H （CFH）、膜辅助因子蛋白（MCP; CD46）和因子I （IF）。然而，这些基因突变的不完全外显率被报道。这表明需要一个突发事件或触发来揭示补体调节缺陷。报道的诱发事件主要引起内皮损伤。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具有更好的预后和移植后的预后。
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.