MYH9基因突变导致家系遗传性血小板减少的临床分析

Clinical analysis of familial hereditary thrombocytopenia caused by MYH9 gene mutation

目的探讨引起就诊患者血小板减少的原因,明确家族遗传性血小板减少症的诊断。方法采用血常规和血涂片镜检检测外周血血小板数量和形态以及中性粒细胞包涵体改变,生化分析仪检测就诊患者肝肾功能指标改变,外周血基因组DNA提取,高通量测序检测患者基因突变类型。结果家系遗传性血小板减少患者肝肾功能正常,血小板显著减少,出现巨大血小板及中性粒细胞淡蓝色包涵体,所有患病者均出现典型血液系统“三联征”,遗传性血小板减少患者发生MYH9基因错义突变c.5521G>A(p.Glu1841Lys)。结论血常规检测联合高通量测序可明确MYH9基因突变导致家系遗传性血小板减少病因诊断,可防止临床因误诊特发性血小板减少性紫癜而过度治疗。

Objective To explore the causes of thrombocytopenia in patients and clarify the diagnosis of familial inherited thrombocytopenia.Methods Routine blood and blood smear microscopy were used to detect the number and morphology of platelets and neutrophil inclusion body changes in peripheral blood,biochemical analyzer was used to detect changes in liver and kidney function indexes,peripheral blood genomic DNA extraction,and high-throughput sequencing was used to detect the type of gene mutations.Results Patients with hereditary thrombocytopenia had normal liver and kidney functions,significant platelet reduction,the appearance of giant platelets and light blue inclusions in neutrophils.All patients had a typical blood“triple syndrome”.Patients with hereditary thrombocytopenia had MYH9 gene missense mutation c.5521G>A(p.Glu1841Lys).Conclusion Routine blood testing combined with high-throughput sequencing can confirm the etiological diagnosis of family hereditary thrombocytopenia caused by MYH9 gene mutation,it can prevent overtreatment due to clinical misdiagnosis of idiopathic thrombocytopenic purpura.