非肌性肌球蛋白重链9基因相关疾病(nonmuscle myo sin heavy chain 9 related disease,MYH9-RD)是MYH9基因突变引起的遗传性血小板减少性疾病,为常染色体显性遗传。患儿自出生起即表现为巨大血小板减少症,症状常伴随终生[1]。通常表现为轻微出血症状,但因临床对该病认识不足,患儿常被漏诊或误诊为慢性免疫性血小板减少性紫癜(ITP),给予不必要甚至有害的治疗,造成不良预后。为避免这种情况发生,本文就儿童MYH9-RD诊断治疗进展做一阐述。1发病率及发病机制因误诊漏诊、临床报道少及不恰当的基因检测,MYH9-RD的准确发病率目前并不清楚。至今国内外文献 Non-muscle myosin heavy chain 9 related disease (MYH9-RD) is a hereditary thrombocytopenic disease caused by MYH9 gene mutation, which is autosomal dominant. Children born from the performance of a huge thrombocytopenia, often accompanied by life-long symptoms [1]. Usually manifested as minor bleeding symptoms, but due to lack of clinical knowledge of the disease, children are often missed or misdiagnosed as chronic immune thrombocytopenic purpura (ITP), give unnecessary or even harmful treatment, resulting in poor prognosis. To prevent this from happening, this article describes the progress of diagnosis and treatment of childhood MYH9-RD. 1 morbidity and pathogenesis due to misdiagnosis, less clinically reported and inappropriate genetic testing, the exact incidence of MYH9-RD is not clear. So far domestic and foreign literature