摘要
MYH9相关疾病(MYH9-RD)是由编码非肌性肌球蛋白重链ⅡA的MYH9基因突变引起的一种罕见的遗传性巨大血小板减少性疾病,典型表型为血小板减少、巨大血小板及中性粒细胞包涵体三联征,部分患者还可伴发肾炎、感音性耳聋、白内障及慢性肝酶异常等非血液系统症状。MYH9相关疾病的突变型多达137种,并与表型具有一定相关性:当突变位于非肌性肌球蛋白重链ⅡA的头部动力区,患者的出血倾向较严重,伴发非血液系统症状风险更高且进展更快;而携带非肌性肌球蛋白重链ⅡA杆、尾部结构域突变的患者,出血表现相对较轻,伴发非血液系统症状的风险相对较低。这种基因型与表型的相关性为临床早期诊断、风险预测及早期干预奠定了理论基础。文章对近年来MYH9-RD基因型与表型的相关性及治疗策略的研究进展做一综述。
MYH9 related disorder(MYH9-RD)is a rare inherited syndrome characterized by giant platelets and thrombocytopenia with or without other non-hematological symptoms such as nephropathy,deafness and cataract.MYH9-RD is caused by the mutations of MYH9 which encodes the non-muscle mysoin heavy chainⅡA(NMMHC-ⅡA).To date,137 mutations for MYH9-RD have been reported.It has been demonstrated that most cases with mutations in global motor of NMMHC-ⅡA tend to display severe bleeding tendency and high risk of non-hematological symptoms,whereas the patients with mutations in coil-coil or non helix tail of NMMHC-ⅡA have relatively mild bleeding and lower risk of associated phenotype.The correlation provides a theoretical foundation for early diagnosis,risk prediction and intervention.The association between MYH9-RD genotype and phenotype and the relevant treatment of MYH9-RD are reviewed.
作者
连晓强
刘小军
郝冀洪
Lian Xiaoqiang;Liu Xiaojun;Hao Jihong(Department of Clinical Laboratory,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China)
出处
《疑难病杂志》
CAS
2020年第4期428-432,共5页
Chinese Journal of Difficult and Complicated Cases
基金
河北省卫计委医学科学研究课题(20180268)。
