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儿童MYH9基因突变引起的血小板减少性疾病1例并文献复习 被引量:1

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摘要 MYH9基因位于染色体22q12.3-q13.2区,包括41个外显子,编码相对分子质量约224000的非肌性肌球蛋白重链ⅡA(NMMHC-ⅡA)。本文报道1例儿童MYH9基因突变引起的血小板减少性疾病,旨在提高临床医生对此病的认识。1病历摘要患儿男,5岁4个月,因"发现血小板减少伴反复鼻衄3年余,再发鼻衄5天"于2018年5月5日入院。患儿为第1胎第1产,母亲孕期体健。患儿就诊前3年余发现血小板减低,伴有反复鼻衄,于多家医院检测均提示血小板均偏低。
出处 《中国乡村医药》 2020年第22期45-46,共2页
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