MYH9异常的实验室和临床诊断策略

The laboratory and clinical diagnosis strategy in MYH9 disorders

肌球蛋白重链9（MYH9）异常是一组由MYH9基因突变引起的遗传性血小板减少症，包括May—Hegglin异常、Epstein综合征、Fechtner综合征和Sebastian综合征。MYH9异常常被误诊为原发性血小板减少性紫癜。本文对其发病机制、临床体征、实验室检查和鉴别诊断进行阐述，以进一步加深临床和实验室对MYH9的认识，同时引起临床的足够重视。

Myosin heavy chain 9 （ MYH9 ） disorders are a group of ihherited thrombocytopenias resulted from the mutation of MYH9 gene, including May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome and Sebastian syndrome. MYH9 disorders are very often misdiagnosed as idiopathic thrombocytopenic purpura （ITP）. For better understanding of MYH9 of clinical and laboratory and getting enough attention in clinical practice, this review will focus on the pathogenesis, clinical manifestations, laboratory examination and differential diagnosis.