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西罗莫司治疗儿童蓝色橡皮疱痣综合征2例并文献复习
全旭, 许春娣, 刘萍, 张清清, 陈烨, 王乐, 肖园
中国当代儿科杂志 ›› 2020, Vol. 22 ›› Issue (9) : 1011-1016.
PDF(1842 KB)
PDF(1842 KB)
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
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。
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.
蓝色橡皮疱痣综合征 / 西罗莫司 / 雷帕霉素 / 消化道出血 / 儿童
Blue rubber bleb nevus syndrome / Sirolimus / Rapamycin / Gastrointestinal bleeding / Child
[1] Jin XL, Wang ZH, Xiao XB, et al. Blue rubber bleb nevus syndrome:a case report and literature review[J]. World J Gastroenterol, 2014, 20(45):17254-17259.
[2] Goud A, Abdelqader A, Walters J, et al. Blue rubber bleb nevus syndrome:a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations[J]. J Community Hosp Intern Med Perspect, 2016, 6(1):29966.
[3] Chen W, Chen H, Shan G, et al. Blue rubber bleb nevus syndrome:our experience and new endoscopic management[J]. Medicine (Baltimore), 2017, 96(33):e7792.
[4] Laplante M, Sabatini DM. mTOR signaling in growth control and disease[J]. Cell, 2012, 149(2):274-293.
[5] Lackner H, Karastaneva A, Schwinger W, et al. Sirolimus for the treatment of children with various complicated vascular anomalies[J]. Eur J Pediatr, 2015, 174(12):1579-1584.
[6] Salloum R, Fox CE, Alvarez-Allende CR, et al. Response of blue rubber bleb nevus syndrome to sirolimus treatment[J]. Pediatr Blood Cancer, 2016, 63(11):1911-1914.
[7] Yuksekkaya H, Ozbek O, Keser M, et al. Blue rubber bleb nevus syndrome:successful treatment with sirolimus[J]. Pediatrics, 2012, 129(4):e1080-e1084.
[8] Zhang B, Li L, Zhang N, et al. Efficacy and safety of sirolimus in the treatment of blue rubber bleb naevus syndrome in paediatric patients[J]. Clin Exp Dermatol, 2020, 45(1):79-85.
[9] Yokoyama M, Ozeki M, Nozawa A, et al. Low-dose sirolimus for a patient with blue rubber bleb nevus syndrome[J]. Pediatr Int, 2020, 62(1):112-113.
[10] Isoldi S, Belsha D, Yeop I, et al. Diagnosis and management of children with blue rubber bleb nevus syndrome:a multi-center case series[J]. Dig Liver Dis, 2019, 51(11):1537-1546.
[11] Ferrés-Ramis L, Knöpfel N, Salinas-Sanz JA, et al. Rapamycin in the treatment of blue rubber bleb nevus syndrome[J]. Actas Dermosifiliogr, 2015, 106(2):137-138.
[12] Warner B, Butt A, Cairns S. Sirolimus is a successful treatment for recurrent iron deficiency anaemia in blue rubber bleb naevus syndrome[J]. J Pediatr Gastroenterol Nutr, 2015, 60(6):e49-e50.
[13] Özgönenel B, Martin A. Low-dose sirolimus controls recurrent iron deficiency in a patient with blue rubber bleb nevus syndrome[J]. Pediatr Blood Cancer, 2015, 62(11):2054-2055.
[14] Gildener-Leapman JR, Rosenberg JB, Barmettler A. Proptosis reduction using sirolimus in a child with an orbital vascular malformation and blue rubber bleb nevus syndrome[J]. Ophthalmic Plast Reconstr Surg, 2017, 33(3S Suppl 1):S143-S146.
[15] Ünlüsoy Aksu A, Sari S, E?rita? Gürkan Ö, et al. Favorable response to sirolimus in a child with blue rubber bleb nevus syndrome in the gastrointestinal tract[J]. J Pediatr Hematol Oncol, 2017, 39(2):147-149.
[16] Akyuz C, Susam-Sen H, Aydin B. Blue rubber bleb nevus syndrome:promising response to sirolimus[J]. Indian Pediatr, 2017, 54(1):53-54.
[17] Kizilocak H, Dikme G, Celkan T. Sirolimus experience in blue rubber bleb nevus syndrome[J]. J PediatrHematol Oncol, 2018, 40(2):168-169.
[18] Wang KL, Ma SF, Pang LY, et al. Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome:a case report[J]. Medicine (Baltimore), 2018, 97(8):e9453.
[19] Soblet J, Kangas J, Nätynki M, et al. Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations[J]. J Invest Dermatol, 2017, 137(1):207-216.
[20] Castillo SD, Vanhaesebroeck B, Sebire NJ. Phosphoinositide 3-kinase:a new kid on the block in vascular anomalies[J]. J Pathol, 2016, 240(4):387-396.
[21] Sandhu KS, Cohen H, Radin R, et al. Blue rubber bleb nevus syndrome presenting with recurrences[J]. Dig Dis Sci, 1987, 32(2):214-219.
[22] Ning S, Zhang Y, Zu Z, et al. Enteroscopic sclerotherapy in blue rubber bleb nevus syndrome[J]. Pak J Med Sci, 2015, 31(1):226-228.
[23] Martinez CA, Rodrigues MR, Sato DT, et al. Blue rubber bleb nevus syndrome as a cause of lower digestive bleeding[J]. Case Rep Surg, 2014, 2014:683684.
[24] Zahedi MJ, Darvish Moghadam S, Seyed Mirzaei SM, et al. Blue rubber bleb nevus syndrome as a rare cause of iron deficiency anemia:a case report and review of literature[J]. Middle East J Dig Dis, 2013, 5(4):235-239.
