目的分析5例Wiskott-Aldrich综合征（Wiskott-Aldrich syndrome,WAS）患儿的临床表现、基因型,梳理诊断思路,拓展新的治疗方法。方法整理5例WAS患儿的临床资料,多种基因检测方法检测WAS基因突变。结果 5例患儿均为男性,均存在不同程度的血小板减少,反复感染仅在病例5中出现,该病例已死亡。病例1及病例2在不同年龄阶段曾出现自身免疫性溶血性贫血,5例均未并发恶性肿瘤。WAS基因突变位点,4例位于外显子,1例位于内含子。母亲热点基因突变验证显示其中2例患儿母亲不存在相应位点突变。结论基因检测提高了疾病诊断的效率,通过家属基因突变位点验证可以了解突变的来源,指导优生优育,拓展WAS新的治疗思路。
Objective To analyze the clinical manifestation and genotypes about five cases of Wiskott-Aldrich syndrome （WAS） to explore new diagnostic and therapeutic methods. Method Clinical material of five WAS cases was collect to detect mutations of WAS. Result Five cases were all boys manifesting thrombocytopenia in varying degree without malig-nant tumor. One of them was recurrent infected,and died. Two cases were complicated by autoimmune hemolytic anemia. According to scoring system of WAS, two were 5, two were 2, and the other is 4. Missense and nonsense mutations were located at exon 5, exon 11, exon 1 and exon 4, respectively, and 1 mutation intron 8. Maternal WAS mutation detections were performed in 3 cases. Two were normal, and one had the same mutation as her child. Conclusion Genetic technolo-gy improves definite diagnosis, the origin of mutations could be learned from testing the doubtable genes of parents, and the quality of birth could be improved. Moreover, there would be a try to treat WAS.
Chinese Journal of Medicine