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作 者:艾奇[1] 陈森[1] Ai Qi;Chen Sen(Tianjin Children’s Hospital,Tianjin 300134,China)
机构地区:[1]天津市儿童医院,300134
出 处:《国际医药卫生导报》2019年第11期1832-1836,共5页International Medicine and Health Guidance News
摘 要:MYH9相关疾病(MYH9-RD)是遗传性血小板减少症最常见的类型之一,是非肌性肌球蛋白重链ⅡA基因,即MYH9变异所致的常染色体显性遗传疾病。患者表现为先天性轻度出血倾向的大血小板性血小板减少症,并可能出现进展性的肾功能异常、耳聋或者白内障。MYH9-RD包括4种之前分别认识的常染色体显性遗传性疾病:May-Hegglin畸形、Sebastian综合征、Fechtner综合征和Epstein综合征。其血小板减少的程度多不严重,诊断比较容易,通过外周血涂片见巨大的血小板即可疑似为该病,进而进行血涂片免疫荧光的方法即可确诊。目前认识到其基因型和临床表现型之间有相关性。临床研究表明促血小板生成素拟似物对该类疾病患者的血小板减少及出血倾向均可能有效。MYH9 related disease(MYH9-RD)is one of the most common types of genetic thrombocytopenia.This disorder is inheritated as an automosal dominant trait and is caused by mutations in MYH9,coding for the nonmuscle myosinⅡA.The clinical features include sensorineural hearing loss,cataract,and progressive nephritis.It is an autosomal dominant disorder including four related syndromes,known as May-Hegglin anomaly,Sebastian syndrome,Epstein syndrome,and Fechtner syndrome.The thrombocytopenia is usually mild,and the suspected diagnosis is usually easy to make by recognizing abnormal giant platelets on blood smear.Furthermore,immunofluorescence is an important method for making a correct diagnosis.Recent studies demonstrated a correlation of genotype-phenotype with MYH9-RD.Clinical studies have shown that Eltrombopag could be effective for this disorder.
关 键 词:遗传性出血性疾病 血小板减少症 非肌性肌球蛋白重链ⅡA MYH9
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