恩格列净治疗SLC37A4基因变异致糖原累积病Ⅰb型3例患儿并文献复习  

Empagliflozin treatment and literature review in three cases of glycogen storage disease type Ib caused by SLC37A4 gene variation

作　　者：胡家倩 王梦琴 张子夏 王曦 黄爱 杨威[1] 李东晓 卫海燕[1] 罗淑颖 陈永兴 HU Jiaqian;WANG Mengqin;ZHANG Zixia;WANG Xi;HUANG Ai;YANG Wei;LI Dongxiao;WEI Haiyan;LUO Shuying;CHEN Yongxing(Department of Endocrinology,Genetics and Metabolism,Zhengzhou Children's Hospital,Henan Children's Hospital,Chidren's Hospital Affiliated to Zhengzhou University,Zhengzhou 450053,Henan,China;Henan Key Laboratory of Children's Genetics and Metabolic Diseases,Henan Children's Neurodevelopment,Engineering Research Center,Zhengzhou 450053,Henan,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科,河南郑州450053 [2]河南省儿童遗传代谢性疾病重点实验室、河南省儿童神经发育工程研究中心,河南郑州450053

出　　处：《山东大学学报(医学版)》2025年第2期58-66,共9页Journal of Shandong University:Health Sciences

基　　金：郑州市科技惠民计划项目(2022KJHM0005)。

摘　　要：目的探讨3例儿童糖原累积病Ib型(glycogen storage disease type Ib,GSDIb)的临床特征和基因变异特点,分析恩格列净治疗GSDIb患儿的临床效果。方法回顾性分析2020年6月至2023年5月在郑州大学附属儿童医院就诊的3例GSDIb型患儿临床资料及基因检测结果。3例患儿均接受恩格列净治疗及饮食干预,随访1~3年,并回顾相关文献。结果3例患儿均为男性,就诊年龄7个月~1岁,主要临床表现为肝脏增大及智力运动发育落后,代谢异常均表现为肝功能异常、空腹低血糖、血清乳酸及三酰甘油升高,均伴有中性粒细胞减少,3例患儿均检出SLC37A4基因复合杂合变异。应用恩格列净治疗年龄分别为1岁2个月、1岁、1岁10个月,随访时间分别为12、17、36个月,均未发生低血糖、泌尿系统感染、肝肾功能异常等不良反应,临床症状得到改善。本研究发现SLC37A4基因1个新变异位点c.1287_1290del,拓展了SLC37A4基因变异谱。结论GSDIb型患儿的临床表现多样,存在中性粒细胞减少及功能缺陷,确诊依赖于基因检测,恩格列净可增加GSDIb患儿中性粒细胞数目,改善患儿临床症状,尽早应用可避免炎症性肠病的发生。Objective To investigate the clinical features and gene variations of 3 children with glycogen storage disease type Ib(GSDIb),and to analyze the clinical effects of empagliflozin in the treatment of these 3 children with GSDIb.Methods The clinical data and genetic test results of 3 children with GSDIb admitted to Children's Hospital Affiliated to Zhengzhou University from June 2020 to May 2023 were retrospectively analyzed.All 3 patients received empagliflozin treatment and dietary intervention,and were followed up for 1 to 3 years.This study also conducted a related literature review.Results All three patients were male.The age at the time of consultation spanned from 7 months to 1 year.The predominant clinical manifestations encompassed enlarged liver and retarded intellectual and motor development.Metabolic irregularities were manifested as abnormal liver function,fasting hypoglycemia,elevated serum lactic acid and triglycerides.All cases were accompanied by neutropenia.Compound heterozygous variations in the SLC37A4 gene were identified in all three individuals.The ages at the initiation of empagliflozin treatment were 1 year and 2 months,1 year,and 1 year and 10 months respectively.The follow-up durations were 12 months,17 months,and 36 months,respectively.No adverse reactions such as hypoglycemia,urinary tract infection,or abnormal liver and kidney function were observed.The clinical symptoms were ameliorated.This study uncovered a new variant site c.1287_1290del in the SLC37A4 gene,thereby expanding the variation spectrum of the SLC37A4 gene.Conclusion Children with GSDIb exhibit diverse clinical manifestations.There is neutropenia and functional deficiency.Diagnosis relies on genetic testing.Empagliflozin can increase the number of neutrophils in children with GSDIb and improve their clinical symptoms.Early application can avoid the occurrence of inflammatory bowel disease.

关 键 词：糖原累积病Ib型 SLC37A4基因 基因变异 恩格列净 

分 类 号：R725[医药卫生—儿科]