Wiskott⁃Aldrich综合征并发幼儿期膜性肾病1例  

Wiskott‐Aldrich syndrome with membranous nephropathy in a child

作　　者：陈首欢 陈静 杨诗聪[2] 裴瑜馨[1] 蒋小云[1] 林知朗 Chen Shouhuan;Chen Jing;Yang Shicong;Pei Yuxin;Jiang Xiaoyun;Lin Zhilang(Department of Pediatric Nephrology and Rheumatology,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China;Department of Pathology,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院儿科,儿童肾脏风湿病中心,广州510080 [2]中山大学附属第一医院病理科,广州510080

出　　处：《中华肾脏病杂志》2024年第10期815-817,共3页Chinese Journal of Nephrology

基　　金：国家重点研发计划(2022YFC2705101)。

摘　　要：Wiskott⁃Aldrich综合征(Wiskott⁃Aldrich syndrome,WAS)是一类罕见的X连锁隐性遗传病,以血小板减少、湿疹、反复感染、易患自身免疫病等为特点,其肾脏并发症主要为IgA肾病。小儿膜性肾病(membranous nephropathy,MN)大多存在继发性因素,其发生与免疫紊乱相关。该文报道1例以出血倾向和反复感染起病的WAS幼儿,病程中并发肾病综合征,病理检查明确为MN,经糖皮质激素、他克莫司和造血干细胞移植治疗,表现为糖皮质激素耐药、他克莫司部分敏感,造血干细胞移植后3个月蛋白尿持续缓解,肾功能稳定。WAS并发MN罕见,其肾脏预后尚不明确,值得临床医师关注。Wiskott‐Aldrich syndrome(WAS)is a rare X-linked recessive genetic disorder characterized by thrombocytopenia,eczema,recurrent infections,and susceptibility to autoimmune diseases.The renal complication of WAS is mainly manifested as IgA nephropathy.Membranous nephropathy(MN)in children mostly has secondary factors,and its occurrence is related to immune disorders.This paper reports a case of WAS in an infant with bleeding tendency and recurrent infections,complicated with nephrotic syndrome during the course,confirmed as MN by pathological examination.After treatment with glucocorticoids,tacrolimus and hematopoietic stem cell transplantation,nephrotic syndrome was manifested as steroid-resistant and partially sensitive to tacrolimus.Proteinuria continued to relieve 3 months after hematopoietic stem cell transplantation and renal function remained stable.WAS complicated with MN is extremely rare,and its renal prognosis is still unclear,which deserves the attention of clinicians.

关 键 词：儿童 Wiskott⁃Aldrich综合征 肾小球肾炎 膜性 肾病综合征 造血干细胞移植 

分 类 号：R726.9[医药卫生—儿科] R725.9[医药卫生—临床医学]