儿童遗传性血栓性血小板减少性紫癜治疗与临床预后:单中心回顾性数据分析  

Treatment and clinical outcome of congenital thrombotic thrombocytopenic purpura in children: a single-center retrospective data analysis

作　　者：傅玲玲[1] 马洁[1] 魏沄沄 马静瑶[1] 姚佳峰[1] 张利强[1] 王瑞欣 杨碧熙 吴润晖[1] Fu Lingling;Ma Jie;Wei Yunyun;Ma Jingyao;Yao Jiafeng;Zhang Liqiang;Wang Ruixin;Yang Bixi;Wu Runhui(Hematology Center,Beijing Key Laboratory of Pediatric Hematology Oncology,National Key Discipline of Pediatrics(Capital Medical University),Key Laboratory of Major Diseases in Children,Ministry of Education,Beijing Children's Hospital,Capital Medical University,National Center for Children’s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院血液二科,儿童血液病与肿瘤分子分型北京重点实验室,儿科学国家重点学科,儿科重大疾病研究教育部重点实验室,北京100045

出　　处：《血栓与止血学》2023年第1期12-17,共6页Chinese Journal of Thrombosis and Hemostasis

基　　金：国家自然科学基金(81970111);北京市自然科学基金(7192064);北京市医管局儿科学科协同发展中心“儿科专项”(XTZD20180205);国家科技重大专项(项目编号:2017ZX09304029001);北京市医管中心培育项目(西医)(PX2022051)。

摘　　要：目的 遗传性血栓性血小板减少性紫癜(congenital thrombotic thrombocytopenic purpura, cTTP)是一种罕见疾病,其中儿科患者病情更重,需要预防性替代治疗以避免远期不良预后。本研究旨在通过单中心数据分析,了解儿童cTTP治疗及临床预后的现状,为开展规范化诊治提供依据。方法 回顾性收集北京儿童医院2015年至2021年间确诊的cTTP的起病情况、治疗模式、发作频率等临床数据,通过随诊了解肾脏及神经系统并发症发生情况。结果 7例cTTP患儿(男1例、女6例)均婴幼儿起病(生后数小时至28月龄),ADAMTS13酶活性为零,且均为复合杂合突变,本研究中14个ADAMTS13突变类型中8个为首次报道。中位随访时间为5.2(0.6~6.9)年,末次随访中位年龄为7(3.3~14.5)岁。均应用新鲜冰冻血浆进行替代治疗:2例预防治疗患儿急性发作频率分别为0.7和1.4次/年,无并发症出现;5例按需治疗患儿平均急性发作频率为3.32(1.0~6.0)次/年,其中3例出现肾损伤并发症。结论 本研究表明ADAMTS13酶活性几乎完全缺乏而导致的婴幼儿期cTTP发病病情较重。为控制病情反复发作和预防肾、脑微血管损伤远期并发症发生,需尽早开展更有效的预防治疗。Objective Congenital thrombotic thrombocytopenic purpura( cTTP) is a rare disorder that is more severe in pediatric patients and requires prophylactic replacement therapy to avoid a poor longterm prognosis. This study aimed to understand the status of cTTP treatment and clinical prognosis in children through single-center data analysis and to provide a basis for standardized diagnosis and treatment.Methods Clinical data of childhood-onset cTTP in our center from 2015 to 2021 were retrospectively collected, including onset, treatment mode, acute episodes, and renal and neurological complications during follow-up.Results All the 7 children with cTTP( 1 male, 6 female) developed the disease in infants( from several hours after birth to 28 months of age), and ADAMTS13 enzyme activity was 0%, all of which were complex heterozygous mutations. Among the 14 kinds of mutation, 8 of them were reported for the first time. The median age at the last follow-up was 7( 3.3~14.5) years old;the median follow-up time was 5.2( 0.6~6.9) years. All patients use fresh frozen plasma for replacement therapy. Two patients received prophylactic treatment, the frequencies of acute episodes were 0. 7 and 1. 4 times per year,respectively, and no complications occurred. Five patients were treated on-demand, with average acute episodes frequency of 3. 32( 1. 0 ~ 6. 0) times per year, and 3 of the 5 patients had renal injury complications.Conclusion Childhood-onset cTTP is more serious, and even if receiving fresh frozen plasma on-demand treatment, the disease is repeatedly delayed. Organ damage occurs gradually, and prophylactic treatment is needed as soon as possible.

关 键 词：遗传性血栓性血小板减少性紫癜 婴幼儿 治疗 临床预后 

分 类 号：R558.2[医药卫生—血液循环系统疾病]