1例ANKRD26基因突变相关的遗传性血小板减少症2家系的临床特征及基因分析

The family withANKRD26 mutation-related inherited thrombocytopenia 2:clinical characteristics and gene analysis

目的探讨遗传性血小板减少症2(THC2)的诊断思路,并分析THC2的分子发病机制,减少THC患者的误诊及漏诊率。方法选择2016年5月28日于郑州儿童医院住院治疗的1例THC2患儿为研究对象。回顾性分析其家系的临床特征及基因测序结果,并且对相关文献进行复习。结果THC2患儿有反复的血小板减少,家系中其母亲及妹妹均发现血小板减少,基因测序结果提示THC2患儿、其母亲和妹妹存在ANKRD26突变基因1号外显子碱基c.-134G>A突变,且为杂合突变,其父亲及外祖母无血小板减少及相关的突变基因。结论 ANKRD26基因突变是该TH C2患儿发病的分子基础。临床上对于反复血小板减少或常规治疗效果不佳的患者应仔细判断,必要时行基因检查,以避免误诊。

Objective To explore the diagnosis approach of inherited thrombocytopenia2（THC2）, and to analyze the molecular mechanism for reducing the rate of misdiagnosis and missed diagnosis of THC2. Methods One child with THC2 was hospitalized in Zhengzhou children ＇ s hospital on 28 th May 2016, and was selected as the object for this study. The clinical features and gene sequencing results of this family were analyzed by retrospective analysis, and the related literatures were reviewed. Results The patient with THC2 had recurrent thrombocytopenia, and his mother and sister were also found to have thrombocytopenia. Gene sequencing results suggested that this patient, his mother and sister carried c.-134 G 〉 A mutation in the first exon of ANKRD26 gene, and this gene mutation is heterozygous. His father and grandmother did not carry any thrombocytopenia and related gene mutation. Conclusions ANKRD26 gene mutation could be the molecular mechanism of the family of THC2. In order to avoid misdiagnosis, gene sequencing is needed for patients who have been found recurrent thrombocytopenia or poor treatment for thrombocytopenia.