Wiskott-Aldrich综合征5例基因突变并文献复习
李娟娟;刘嵘;李君惠;李龙;师晓东
【期刊名称】《中国医刊》 【年(卷),期】2015(000)008
【摘要】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.%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
Wiskott-Aldrich综合征5例基因突变并文献复习
