Koutroutsos Konstantinos, Jardine Jennifer, Ross Louise, Papageorghiou Aris, Stasi Roberto, Banerjee Debasish
St George's University of London, London, UK.
J Nephrol. 2014 Jun;27(3):345-8. doi: 10.1007/s40620-013-0007-2. Epub 2014 Jan 31.
Differential diagnosis between thrombotic microangiopathies in pregnancy is challenging due to overlapping clinical and pathological findings and the rapid progression of disease. We present here an unusual case of Haemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome, which represents this diagnostic dilemma. The patient was treated with steroids and plasma exchange, leading to a favourable outcome. Subsequent genetic testing for complement dysregulation revealed a previously unknown variant in intron 3 of the gene coding for the alternative complement pathway factor H: (c.350+9T>C). We discuss here the diagnostic dilemma presented, the treatment pathway in the current literature, and the potential involvement of complement deregulation in severe HELLP. This case underlines the complexity in the diagnosis and management of pregnancy-related thrombotic microangiopathies.
由于临床和病理表现重叠以及疾病进展迅速，妊娠期血栓性微血管病的鉴别诊断具有挑战性。我们在此介绍一例不寻常的溶血、肝酶升高和血小板减少（HELLP）综合征病例，该病例体现了这一诊断难题。患者接受了类固醇和血浆置换治疗，取得了良好的效果。随后针对补体调节异常的基因检测发现，编码替代补体途径因子H的基因内含子3中有一个此前未知的变异：（c.350+9T>C）。我们在此讨论所呈现的诊断难题、当前文献中的治疗途径以及补体调节异常在严重HELLP中的潜在作用。该病例凸显了妊娠相关血栓性微血管病诊断和管理的复杂性。
