西罗莫司治疗儿童蓝色橡皮疱痣综合征2例并文献复习

Clinical effect of sirolimus in treatment of blue rubber bleb nevus syndrome in children: a report of 2 cases and literature review

摘要:

为探讨口服西罗莫司治疗儿童胃肠道蓝色橡皮疱痣综合征（BRBNS）的疗效，该文回顾性分析了2例BRBNS患儿的临床资料和使用西罗莫司治疗的随访结果。2例伴有消化道出血和贫血的BRBNS患儿，给予口服西罗莫司（初始剂量为1 mg/d）作为治疗方案的一部分，维持血药浓度在2.5~12.0 ng/mL之间，患儿消化道出血消失，贫血和凝血功能改善，治疗期间可停止输血且无明显药物不良反应。在PubMed、万方数据库、中国知网搜索西罗莫司治疗BRBNS的相关文献进行总结。检索文献结果显示，年龄为0~18岁的BRBNS儿童病例共检索出26例，加上该研究中报道的2例，共28例使用西罗莫司治疗均取得满意疗效。西罗莫司在儿童BRBNS患者的治疗中可能是有效和安全的，有待进一步的前瞻性研究来评估这种药物的长期疗效。

Abstract:

To study the clinical effect of oral sirolimus in the treatment of children with blue rubber bleb nevus syndrome (BRBNS) in the gastrointestinal tract, a retrospective analysis was performed on the clinical data and follow-up results of two children with BRBNS treated by sirolimus. The two children with BRBNS had gastrointestinal bleeding and anemia and were treated with sirolimus at a dose of 1 mg/day as part of treatment. The plasma concentration of the drug was maintained between 2.5-12.0 ng/mL. The children showed disappearance of gastrointestinal bleeding and improvements in anemia and coagulation function, and blood transfusion could be stopped during treatment, with no obvious adverse drug reactions. PubMed, Wanfang Data, and CNKI were searched for related articles on sirolimus in the treatment of BRBNS. A total of 26 cases of children with BRBNS, aged 0-18 years, were obtained. With the addition of the 2 cases in this study, sirolimus treatment achieved a satisfactory clinical effect in all 28 cases. Sirolimus may be effective and safe in the treatment of children with BRBNS, and further prospective studies are needed to evaluate the long-term efficacy of this drug.