【摘要】 目的通过对Wiskott-Aldrich综合征(WAS)的临床经过、实验室检查和治疗的综合分析,来提高对该疾病的认识。方法收集WAS患儿临床资料,先证者的外周血、血片及父母的外周血,应用聚合酶链反应(PCR)扩增后直接基因测序来诊断。结果 WAS是一种单拷贝基因缺陷病,连锁分析将WAS蛋白(WASP)基因定位位于X染色体短臂,基因序列中包括错义、无义、剪接位点突变及插入、缺失等,其母多为杂合子。结论在儿科的血小板减少性疾病中,结合小年龄发病,伴有湿疹、反复感染史,均需要排除WAS。更多还原

【Abstract】 Objective Wiskott-Aldrich syndrome(WAS)is a rare X-linked recessive immunodeficiency disease.Most of the patients are younger than six months old.In this study,we analyzed the clinical course,laboratory examinations and treatment of WAS in order to improve the understanding,diagnosis and further research on it.Methods The clinical data and the peripheral blood samples were collected from the proband and the patients’parents.In order to diagnose the disease,the DNA samples were submitted to direct sequencing after the polymerase chain reaction(PCR)amplification.Results WAS is a single genetic disorder.The linkage analysis identified the WAS related protein(WASP)locates in the short arm of X chromosome.The mutations involved in WASP gene include missense mutation,silent mutation,splicing mutation,insert mutation and delete mutation.Most of the mutations detected in WASP gene were heterozygous in patients’mothers.Conclusions It needs to be kept in mind to exclude WAS when diagnosing the thrombocytopenic diseases in young aged children with repeated infection and eczema.更多还原