女性Wiskott-Aldrich综合征一例及其研究进展

A case of Wiskott-Aldrich syndrome in female and its research progress

Wiskott-Aldrich综合征(WAS)是一种以血小板减少、湿疹和免疫缺陷为特征的X-连锁隐形遗传病,主要由编码WAS蛋白(WASp)的基因突变所致。发病多见于男性,国内外罕有女性患者报道。本文作者报道南京市儿童医院确诊的1例女性WAS。病初患儿因“面色苍白2个月,发现皮肤出血点2 d”入院,病程6年余,伴湿疹、反复感染、自身免疫性贫血、血小板减少。基因分析发现患儿WAS基因1号外显子上携带来源于母亲的杂合无义突变,但因表达正常WAS基因的X染色体发生失活偏移,导致女性患病。本文作者回顾该例患者的临床特征,结合遗传分析并检索国内外相关文献,总结女性WAS的发病模式,旨在呼吁临床医师高度重视女性WAS,及时甄别疑似患者行遗传咨询,提高早期诊断、减少误诊。

Wiskott-Aldrich syndrome(WAS)is a rare X-linked recessive genetic disease characterized by thrombocytopenia,eczema,and immunodeficiency,which is mainly caused by abnormal expression of Wiskott-Aldrich syndrome protein(WASp)due to WAS genemutation.WAS is mainly reported in males,few in females.Here we reported a female case who was diagnosed with WAS in Nanjing Children s Hospital.The girl was hospitalized due to pale complexion for 2 months and petechiae for 2 days.The main clinical manifestations were autoimmune amentia,thrombocytopenia accompanied with eczema,recurrent infections for 6 years.Genetic analysis revealed the girl carried a heterozygous nonsense mutation existed in exon 1 of WAS gene,from her mother.Furthermore,the X-chromosomes bearing normal WAS gene werepredominantly inactivated,which might elucidate the pathogenesis of WAS in females.Hence,we summarized clinical manifestation and genetic analysis,with literature review in female WAS.We hope to increase clinicians’awareness of female patients.For those who are suspected of WAS,it is recommended to conduct a genetic analysis to diagnose and treat in time.