Wiskott-Aldrich综合征的临床特点及基因诊断  

Clinical features and gene diagnosis of children with Wiskott-Aldrich syndrome

作　　者：林丹娜[1] 余莉华[1] 王小兰[1] 巫一立 吴莉 胡秋磊 王斌[1] 杨丽华[1] LIN Dan-na;YU Li-hua;WANG Xiao-lan;WU Yi-li;WU li;HU Qiu-lei;WANG Bin;YANG Li-hua(Department of Pediatrics, Zhujiang Hospital of Southen Medical University, Guangdong, Guangzhou 510280, China)

机构地区：[1]南方医科大学附属珠江医院儿科,广东广州510280

出　　处：《发育医学电子杂志》2018年第1期34-39,共6页Journal of Developmental Medicine (Electronic Version)

摘　　要：目的分析2例Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS)患儿的临床资料和基因测序结果,探讨其诊治方法,以提高对本病的认识。方法对南方医科大学附属珠江医收治的2例WAS患儿的临床特点、实验室检查结果、治疗经过进行回顾性分析。利用Sanger测序方法检测患儿及其部分家庭成员的WAS基因,分析其家系特征。结果 2例患儿分别于2月龄和1月龄起病,以皮肤瘀点瘀斑、血便及湿疹起病,多次发生呼吸道及消化道感染。血常规提示血小板减少、血小板体积小;免疫功能检测提示IgG、IgM及IgA水平正常或减低、CD4+/CD8+T细胞比值升高;骨髓形态学提示巨核细胞成熟障碍。其中1例淋巴细胞扫描电镜示细胞表面绒毛消失、呈皱折状。WAS基因测序分析:病例1患儿为c.IVS3-7T>G,其母亲和姐姐为携带者;病例2患儿为c.1057_1058del AC(p.P341fs X493),其母亲及二姐为携带者,其大姐及表姐基因检测结果正常。两例患儿在确诊WAS前均误诊为免疫性血小板减少症,并反复使用糖皮质激素治疗,效果不佳。确诊WAS后给予定期输注人免疫球蛋白支持治疗,其中病例2患儿行异基因造血干细胞移植术(HSCT)。分别随访至患儿9岁7个月、7岁10个月,两例患儿均存活,病例1患儿随访期间发生EB病毒感染及多次溶血性贫血,病例2患儿无病生存。结论对于出生后早期罹患血小板减少伴湿疹和感染,且激素和IVIG治疗效果不佳的男性患儿,需要警惕患WAS的可能。基因检测是确诊WAS的金标准。定期免疫球蛋白输注是重要的支持治疗手段。HSCT是目前有效的治疗手段。Objective To analyze the clinical data and gene sequencing results of two cases of children with Wiskott-Aldrich syndrome（WAS） and to discuss the diagnosis and treatment so as to improve understanding of the disease.Methods The clinical features,laboratory findings and treatment of two infants diagnosed with WAS in Department of Pediatrics in Zhujiang Hospital of Southern Medical University were retrospectively analyzed.The Sanger sequencing method was used to detect WAS gene mutations in the patients and some of their family members,and the family characteristics were analyzed.Results The two cases were respectively onset at the age of 2 months and 1 month,with petechiae,bloody stool and eczema,and recurrent respiratory and gastrointestinal infections.Blood routine examination showed thrombocytopenia and small platelet volume.Immune function tests showed normal or decreased levels of Ig G,Ig M and Ig A and increased ratio of CD4 ＋/CD8 ＋ T cells.Bone marrow morphology suggested dysmaturity of megakaryocytes.The electron microscopy scanning was done in one of the cases showing disappearance of cell surface villi and a crumpled cell shape.Results of WAS gene sequencing：Case 1 was detected with c.IVS3-7 T〉G and his mother and sister were carriers;Case 2 was detected with c.1057_1058 del AC（p.P341 fs X493） and his mother and younger sister were carriers while gene test results of elder sister and his cousin were normal.These two cases were misdiagnosed as immune thrombocytopenia（ITP） before the diagnosis of WAS,and were repeatedly treated with glucocorticoid with no improvement.After the diagnosis of WAS,the two infants were treated with intravenous immunogloblin（IVIG） and case 2 underwent allogeneic hematopoietic stem cell transplantation（HSCT）.Being followed up to 9 years and 7 months old（case 1） and 7 years and 10 months old（case 2） respectively,the two children were both alive.Epstein-Barr virus（EBV） infection and recurrent hemolytic anemia occurred during the follow-up in

关 键 词：WISKOTT-ALDRICH综合征 血小板减少 免疫缺陷 湿疹 

分 类 号：R440[医药卫生—诊断学] R725.9[医药卫生—临床医学]