Fakhouri Fadi, Jablonski Mathieu, Lepercq Jacques, Blouin Jacques, Benachi Alexandra, Hourmant Maryvonne, Pirson Yves, Dürrbach Antoine, Grünfeld Jean-Pierre, Knebelmann Bertrand, Frémeaux-Bacchi Véronique
Department of Nephrology, Assistance Publique-Hopitaux de Paris, Hôpital Necker, Université Paris Descartes, Inserm U845, Paris, France.
Blood. 2008 Dec 1;112(12):4542-5. doi: 10.1182/blood-2008-03-144691. Epub 2008 Jul 24.
The HELLP syndrome, defined by the existence of hemolysis, elevated liver enzymes, and low platelet count, is a serious complication of pregnancy-related hypertensive disorders and shares several clinical and biologic features with thrombotic microangiopathy (TMA). Several recent studies have clearly shown that an abnormal control of the complement alternative pathway is a major risk for the occurrence of a peculiar type of TMA involving mainly the kidney. The aim of this study was to screen for complement abnormalities in 11 patients with HELLP syndrome and renal involvement. We identified 4 patients with a mutation in one of the genes coding for proteins involved in the regulation of the alternative pathway of complement. Our results suggest that an abnormal control of the complement alternative pathway is a risk factor for the occurrence of HELLP syndrome.
HELLP综合征定义为存在溶血、肝酶升高和血小板计数降低，是妊娠相关高血压疾病的一种严重并发症，与血栓性微血管病（TMA）具有若干临床和生物学特征。最近的几项研究清楚地表明，补体替代途径的异常调控是发生主要累及肾脏的一种特殊类型TMA的主要风险。本研究的目的是筛查11例有肾脏受累的HELLP综合征患者的补体异常情况。我们鉴定出4例患者在编码参与补体替代途径调控的蛋白质的基因之一中存在突变。我们的结果提示，补体替代途径的异常调控是HELLP综合征发生的一个风险因素。
