Wiskott-Aldrich综合征2例临床特征和基因分析

Analysis of novel gene mutation in two cases with Wiskott-Aldrich syndrome and clinical characteristics

目的通过分析2例Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS)患者的临床特点、实验室检测和治疗经过,来提高对该病的认识。方法分析患者的临床资料,应用聚合酶链反应(PCR)扩增法检测WAS蛋白(Wiskott-Aldrich syndrome protein,WASP)基因,并进行测序分析。结果两例患儿均为轻型的WAS表型,临床表型评分为3分,经基因测序分析:例1 WASP基因外显子2(Exon 2)存在错义突变291G>A,p.Arg86His,例2WASP基因外显子4(Exon 4)存在缺失突变c.410-419del10,均为病理性突变。结论对于出生后反复罹患血小板减少,同时伴有湿疹和感染,激素、丙种球蛋白治疗不佳的男性患儿,均需要排除WAS可能,基因诊断有助于该病的早期识别和正确诊断。

Objective To analyze the clinical characteristics, laboratory examination and treatment of two patients with Wiskott-Aldrich syndrome（WAS） for the understanding, diagnosis and further research. Methods The clinical features of two patients with WAS were analyzed, the DNA samples were submitted to direct sequencing after polymerase chain reaction amplification. Results Two cases had a mild WAS phenotype, their clinical scores were 3. Sequencing revealed a missense mutation in exon 2,291G〉A of one case and a deletion mutation in exon 4, c. 410-419 of the other case. Conclusion Frequently affected male children who presented recurrent infections, persistent thrombocytopenia and eczema, should be considered to have the possibility of suffering from WAS. Genetic diagnosis can help recognize earlier and diagnose correctly the disease.