西罗莫司治疗儿童蓝色橡皮疱痣综合征5例并文献复习  

Sirolimus in the Treatment of 5 Cases of Blue Rubber Bleb Nevus Syndrome in Children and Literature Review

作　　者：王跃生 张敬 薛福敏[1] 于志丹 李小芹 Wang Yuesheng;Zhang Jing;Xue Fumin;Yu Zhidan;Li Xiaoqin(Children’s Hospital Affiliated to Zhengzhou University,Henan Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou Key Laboratory of Children’s Digestive Diseases,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院,郑州市儿童消化疾病重点实验室,郑州450018

出　　处：《儿科药学杂志》2024年第2期36-40,共5页Journal of Pediatric Pharmacy

基　　金：2018年度河南省医学科技攻关计划项目,编号2018020639。

摘　　要：目的:探讨儿童蓝色橡皮疱痣综合征(BRBNS)的临床特征及应用西罗莫司治疗的临床疗效。方法:收集我院2019年1月至2022年4月收治的5例儿童BRBNS的临床资料。通过PubMed、中国知网、万方数据库检索建库至2022年4月收录的文献,分析BRBNS的临床特征、诊断、治疗及预后情况。结果:5例BRBNS均有皮肤静脉畸形及胃肠道病变;伴随重度小细胞低色素性贫血,表现为面色苍白、生长缓慢;内镜对BRBNS诊断率达100%,病变分布在胃、十二指肠、空肠、回肠、结肠等。治疗上需多次输血、口服普萘洛尔、局部介入或硬化处理病变。多数3~6个月复发,改用西罗莫司后症状好转。西罗莫司起始日剂量为0.5~1.0 mg/m^(2),根据血药浓度调整剂量增加至每日2.0 mg/m^(2),达到目标浓度5.0~10.0 ng/mL,维持血红蛋白至稳定水平。结论:儿童BRBNS临床症状较重且易反复,西罗莫司可作为安全有效的治疗药物。Objective:To probe into the clinical characteristics of blue rubber bleb nevus syndrome(BRBNS) in children and the clinical efficacy of sirolimus.Methods:Clinical data of 5 children with BRBNS from Jan.2019 to Apr.2022 were extracted.Literature were retrieved through PubMed,CNKI and Wanfang database to analyze the clinical characteristics,diagnosis,treatment and prognosis of BRBNS until Apr.2022.Results:Five cases of BRBNS had cutaneous venous malformations and gastrointestinal lesions,accompanied by severe small cell hypochromic anemia,characterized by pale complexion and slow growth.Endoscopic diagnosis of BRBNS was 100%,with lesions distributed in the stomach,duodenum,jejunum,ileum,and colon.Treatment required multiple blood transfusions,oral propranolol,local intervention or sclerotic treatment of the lesion.Most of the lesions recurred from 3 to 6 months,the symptoms were improved after using sirolimus.The initial dose of sirolimus was 0.5 to 1.0 mg/m^(2) per day,the dose was adjusted to 2 mg/m^(2) per day according to the blood concentration to reach the target concentration of 5.0 to 10.0 ng/mL,the hemoglobin was maintained to a stable level.Conclusion:The clinical symptoms of BRBNS in children are severe and easy to recur,sirolimus can be used as a safe and effective treatment for BRBNS in children.

关 键 词：西罗莫司 蓝色橡皮疱痣综合征 临床特征 儿童 

分 类 号：R725.9[医药卫生—儿科]