合并炎症性肠病的糖原累积病-Ⅰb型5例患儿SGLT2抑制剂治疗效果分析  

Therapeutic efficacy of an SGLT2 inhibitor in five pediatric patients with glycogen storage disease typeⅠb and inflammatory bowel disease

作　　者：夏瑜 葛文松[2] 杜陶子 龚自珍[1] 肖冰[1] 梁黎黎[1] 王瑞芳[1] 杨奕[1] 邱文娟[1] XIA Yu;GE Wensong;DU Taozi;GONG Zizhen;XIAO Bing;LIANG Lili;WANG Ruifang;YANG Yi;QIU Wenjuan(Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Gastroenterology,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院儿内分泌遗传科,上海200092 [2]上海交通大学医学院附属新华医院消化科,上海200092

出　　处：《临床儿科杂志》2023年第4期294-299,共6页Journal of Clinical Pediatrics

基　　金：国家重点研发计划(No.2022YFC2703400);上海市交通大学医学院儿科学院先天性肾上腺皮质功能不全临床研究中心(No.ELYZX202106)。

摘　　要：目的分析5例合并炎症性肠病(IBD)的糖原累积病-Ⅰb型(GSD-Ⅰb)患儿接受钠-葡萄糖共转运体2(SGLT2)抑制剂的治疗效果。方法回顾性分析2021—2022年接受治疗并随访的5例合并IBD的GSD-Ⅰb型患儿,SGLT2抑制剂治疗前后的临床表现、实验室及辅助检查。结果5例患儿IBD发作中位年龄为5.0岁。5例均有口腔溃疡、腹痛、腹泻及肛周脓肿。SGLT2抑制剂治疗前,5例的中位儿童克罗恩病活动指数(PCDAI)为55.0。SGLT2抑制剂中位治疗12.0月后[末次随访中位剂量0.31 mg/(kg·d)],中位PCDAI(10.0)显著降低(P=0.043),5例均获得临床应答。治疗中,2例出现低血糖,4例出现会阴部或尿道口瘙痒。发现2种新SLC 37A4变异(c.2delT,c.1065delG)。c.446G>A(p.G 149E)为热点变异(70%)。结论SGLT2抑制剂可明显改善GSD-Ⅰb型患儿的IBD活动度,且安全性良好。Objective To analyze the therapeutic effect of a sodium-glucose co-transporter 2(SGLT2)inhibitor in five pediatric patients with glycogen storage disease typeⅠb(GSD-Ⅰb)and inflammatory bowel disease(IBD).Methods Changes in clinical manifestations and laboratory tests of five pediatric GSD-Ⅰb patients with IBD before and after the administration of a SGLT2 inhibitor from 2021 to 2022 were analyzed retrospectively.Results The median age of IBD onset was 5.0 years old.All five patients presented with oral ulcers,abdominal pain,diarrhea and perianal abscess.Before the administration of the SGLT2 inhibitor,the median pediatric Crohn’s disease activity index(PCDAI)was 55.0.After the treatment[median length of treatment:12.0 months,median dose at the last follow-up:0.31 mg/(kg·d)],the median PCDAI(10.0)was significantly decreased(P=0.043),and all the patients achieved clinical response.During the treatment,2 patients developed hypoglycemia and 4 patients developed pruritus in perineum or urethral orifice.Two novel SLC 37A4 variants were identified(c.2delT,c.1065delG)and c.446G>A(p.G149E)was a hotspot variant(70%).Conclusions The SGLT2 inhibitor can significantly and safely reduce the disease activity of IBD in pediatric GSD-Ⅰb patients.

关 键 词：糖原累积病-Ⅰb型 SLC 37A4基因 炎症性肠病 中性粒细胞减少症 SGLT2抑制剂 

分 类 号：R725[医药卫生—儿科]