儿童遗传性血小板减少症临床和基因特征

Clinical and genetic characteristics of hereditary thrombocytopenia in children

目的探讨儿童遗传性血小板减少症(HT)的临床和基因特征。方法收集2017年12月至2020年5月我院收治并确诊的6例HT患者的资料进行回顾性分析。结果6例患儿最大年龄为13岁6月,最小为1月3天;共检出4例致病/可能致病:WAS基因突变2例,MYH9基因突变1例,SBDS基因突变1例;2例不确定:LRBA基因突变1例,GBA突变1例;所有这些变异中4例杂合(其中一例为复合杂合),2例半合子;6个基因中AR遗传2例,XR遗传2例,AD遗传1例。对5例进行核心家系分析,1例为新发突变。结论及时认识血小板减少症的病因至关重要,在常规检查中实施NGS将使难治性血小板减少症患者得到更准确的诊断。

Objective To investigate the clinical and genetic characteristics of hereditary thrombocytopenia(HT)in children.Methods Data of 6 HT patients admitted and diagnosed in our hospital from December 2017 to May 2020 were retrospectively analyzed.Results The oldest age of the 6 children was 13 years and 6 months,and the youngest was 1 month and 3 days.A total of 4 cases of pathogenic/possible pathogenic genes were detected,including 2 cases of WAS gene mutation,1 case of MYH9 gene mutation and 1 case of SBDS gene mutation.2 cases were uncertain:1 case of LRBA gene mutation,1 case of GBA mutation;Of all these variants,4 were heterozygous(one was compound heterozygous)and 2 were hemizygous.Among the 6 genes,there were 2 cases of AR inheritance,2 cases of XR inheritance and 1 case of AD inheritance.Core pedigree analysis was performed in 5 cases,and 1 case was a new mutation.Conclusion It is very important to know the etiology of thrombocytopenia in time.The implementation of NGS in routine examination will make the patients with refractory thrombocytopenia get more accurate diagnosis.