科研之友
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摘要
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 %26gt; 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.
- 出版日期2014-6
