摘要
目的探讨新生儿Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS)的临床表现和基因变异特点。方法对2016年1月至2022年8月西安交通大学附属西安市儿童医院新生儿中心收治的WAS新生儿进行回顾性分析,总结其临床特点、实验室检查结果、基因型特点及随访情况。结果共纳入11例WAS患儿,均为男性。3例患儿母亲孕期有血小板减少,11例患儿均有重度血小板减少。首发症状为单纯血丝便4例,黄疸3例,血丝便并皮肤出血点、血丝便伴呕血、咳嗽、发热各1例;湿疹出现时间6 d~3个月,6例在新生儿期出现;所有患儿新生儿期均无严重感染。9例初次感染时间8 d~5个月,末次随访时有2例尚未出现感染。基因分析结果示,4例为移码变异(c.30dupC、c.205dupT、c.1340_1343dupC和c.673_674delA),4例为无义变异(c.37C>T、c.295C>T、c.889C>T和c.823G>T),3例为错义变异(c.134C>T、c.397G>A和c.341T>C)。家系验证发现10例变异来自母亲,1例为新发变异。结论WAS在新生儿期以血丝便和湿疹为主要症状,多无严重感染,缺乏特征性表现。男性新生儿发生不明原因血小板减少时,应尽早进行基因筛查早期识别该类疾病。
Objective To study the clinical and genetic characteristics of Wiskott-Aldrich syndrome(WAS)in neonates.Methods From January 2016 to August 2022,neonates with WAS admitted to the neonatal department of our hospital were studied.Their clinical features,laboratory findings,genetic characteristics and clinical outcomes were retrospectively analyzed.Results A total of 11 neonates(all male)were included.The mothers of 3 neonates had thrombocytopenia during pregnancy.The presenting symptoms included isolated bloody stool(4 cases),jaundice(3 cases),bloody stool with petechiae,bloody stool with hematemesis,cough and fever(1 case each).Eczema appeared from 6 d to 3 months after birth and in 6 cases during the neonatal period.None of the 11 cases had serious infection during the neonatal period.9 cases had infection from 8 d to 5 months and 2 cases had not been infected until the last follow-up.Genetic sequencing showed four frameshift variants(c.30dupC,c.205dupT,c.1340_1343dupC and c.673_674delA),four nonsense variants(c.37C>T,c.295C>T,c.889C>T and c.823G>T)and three missense variants(c.134C>T,c.397G>A and c.341T>C).Pedigree verification of variants found 10 cases were inherited from their mothers and 1 case was de novo variant.Conclusions WAS is characterized by bloody stool and eczema in the neonatal period,mostly without serious infections and lacking specific manifestations.Genetic screening for early identification of unexplained thrombocytopenia in male newborns should be performed as early as possible.
作者
黄文娣
陈璐
魏家凯
杨颖
赵玉娟
Huang Wendi;Chen Lu;Wei Jiakai;Yang Ying;Zhao Yujuan(Neonatal Department of Affiliated Hospital of Xi'an Jiaotong University,Xi'an Children's Hospital,National Regional Medical Center for Children's Health,Xi'an 710003,China;Shaanxi Institute for Pediatric Diseases,Xi'an 710002,China)
出处
《中华新生儿科杂志（中英文）》
CAS
CSCD
2023年第4期215-219,共5页
Chinese Journal of Neonatology
基金
西安交通大学附属西安市儿童医院院级项目基金(2020B03)。
