湿疹、血小板减少伴免疫缺陷综合征患者脾切除术的应用探讨  

Application of splenectomy in Wiskott-Aldrich syndrome with eczema and thrombocytopenia in children

作　　者：戴荣欣[1,2,3] 李文言 杜潇 丁媛 张志勇[1,2,3] 唐雪梅 赵晓东[1,2,3] 杨曦 DAI Rongxin;LI Wenyan;DU Xiao;DING Yuan;ZHANG Zhiyong;TANG Xuemei;ZHAO Xiaodong;YANG Xi(Department of Rheumatism and Immunity,Children’s Hospital of Chongqing Medical University,Chongqing 400014,China;Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing 400014,China;Chongqing Key Laboratory of Child Infection and Immunity,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科 [2]儿童发育疾病研究教育部重点实验室,国家儿童健康与疾病临床医学研究中心,儿童发育重大疾病国家国际科技合作基地 [3]儿童感染免疫重庆市重点实验室,重庆400014

出　　处：《临床儿科杂志》2020年第10期760-764,共5页Journal of Clinical Pediatrics

基　　金：国家自然科学基金青年基金(No.81701627,No.81801637)。

摘　　要：目的探讨脾脏切除术治疗对湿疹、血小板减少伴免疫缺陷综合征(WAS)预后的影响。方法回顾分析1例于2015年行脾脏切除术的轻型WAS综合征患儿的临床资料,并复习相关文献。结果男性患儿,出生后多次出现皮肤黏膜、消化道出血,血小板最低至3×109/L。12岁时经基因检测确诊为X连锁血小板减少症(XLT),16岁时因再次出现皮肤黏膜出血行脾脏切除术,手术前后未进行针对性预防接种。患儿于脾脏切除术后2天,血小板计数上升至正常水平;术后26天患儿出现发热、皮肤黏膜出血,伴严重血小板减少,诊断严重脓毒血症。经抗感染、支持治疗近3个月,患儿体温逐渐稳定、呼吸道症状好转,血小板稳定至正常水平。文献报道,接受脾脏切除术的部分WAS及XLT患者血小板计数可上升至正常水平,但面临术后严重感染风险。结论对顽固性血小板减少,常规治疗困难的XLT患者,脾脏切除术是可选的治疗方案之一。术前有必要预防性疫苗接种和预防性使用抗生素。Objectives To explore the effect of splenectomy on the prognosis of Wiskott-Aldrich syndrome(WAS)with eczema and thrombocytopenia.Method The clinical data of mild WAS syndrome in a child who underwent splenectomy in 2015 were retrospectively analyzed,and the relevant literature was reviewed.Results A boy had multiple episodes of skin and mucous membrane bleeding and gastrointestinal bleeding after birth,and the lowest platelet count was 3×109/L.X-linked thrombocytopenia(XLT)was diagnosed by genetic testing at the age of 12 years.Splenectomy was performed at the age of 16 years due to the recurrence of skin and mucosal bleeding.No targeted vaccinations were given before and after the operation.On the 2 nd day after splenectomy,the platelet count rose to normal.On the 26 th day after operation,the patient developed fever,skin and mucous membrane hemorrhage,accompanied by severe thrombocytopenia,so he was diagnosed with severe sepsis.After anti-infection and supportive treatment for nearly 3 months,the temperature was gradually stabilized,respiratory symptoms was improved,and platelet count was stabilized to a normal level.It had been reported that platelet counts in WAS and XLT children undergoing splenectomy could rise to normal levels,but these children were at risk of severe postoperative infection.Conclusion Splenectomy is one of the alternative treatment options for XLT patients with refractory thrombocytopenia and with difficulty in conventional treatment.Prophylactic vaccination and prophylactic use of antibiotics are necessary before surgery.

关 键 词：WAS综合征 X连锁血小板减少症 脾切除 部分脾栓塞术 

分 类 号：R726.5[医药卫生—儿科]