儿童肝糖原贮积病血糖及生化指标的横断面调查  

A Cross-sectional Study of Blood Glucose and Biochemical Indicators in Pediatric Patients with Hepatic Glycogen Storage Disease

作　　者：马妮 吴昊天 王颖[1] 杨静[1] 梁丹霞 杨敏[1] MA Ni;WU Haotian;WANG Ying;YANG Jing;LIANG Danxia;YANG Min(Department of Pediatrics,Guangdong Provincial People's Hospital,Southern Medical University,Guangzhou 510080,China)

机构地区：[1]南方医科大学附属广东省人民医院儿科,广东广州510080

出　　处：《中山大学学报(医学科学版)》2025年第1期132-137,共6页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金(82470545,82070537)。

摘　　要：【目的】肝糖原贮积病(GSD)患者有反复的低血糖发作。本研究的目的是调查分析儿童肝糖原贮积病(GSD)日常血糖及生化指标,为预防低血糖发作和临床管理提供数据支持。【方法】横断面现场调查研究,收集2024年7月14日在广东省人民医院儿科进行医患交流义诊活动的肝GSD患者及家长的临床资料,现场采集患者及家庭对照者的外周血,检测和分析两组间血糖及生化指标的差异。【结果】44例肝GSD患者中男34例,女10例。亚型包括GSD Ib型14例、Ia型15例,Ⅲ型2例,Ⅵ型7例,Ⅸ型6例。年龄为7.60(5.08~11.98)岁,所有患者均依赖生玉米淀粉维持血糖。肝GSD患者中平素肝大和反复低血糖发作的患病率分别为77.3%(34/44)和61.4%(27/44)。此次检测有61.4%(27/44)的患者血糖≤3.9 mmol/L,其中18.2%(8/44)的患者血糖≤2.8 mmol/L,且均为非Ib型患者,血糖最低值为1.19 mmol/L,医患交流活动期间所有患者均未出现低血糖的症状发作。65.9%(29/44)的家庭受检者的血糖≤3.9 mmol/L,与肝GSD组比较,低血糖的患病率差异无统计学意义(P=0.658)。生化检测中,肝GSD患者高乳酸血症、高尿酸血症和高胆固醇血症的患病率分别为65.9%、45.5%和9.1%,而家庭对照受检者分别为18.2%,43.2%,15.9%,两组的高尿酸血症和高胆固醇血症患病率差异无统计学意义(P=0.830,P=0.334)。【结论】肝GSD患者的无症状性低血糖较为普遍,特别是非Ib型患者,需要优化生玉米淀粉的饮食管理,进行动态血糖监测,并注意家庭清淡饮食,降低高尿酸血症和高胆固醇血症发生,避免严重低血糖状态带来的严重不良反应风险、降低并发症。【Objective】Patients with hepatic glycogen storage disease(GSD)have recurrent episodes of hypoglycemia.This study aimed to investigate and analyze blood glucose and biochemical indicators in pediatric patients with hepatic GSD,thus provide data support for hypoglycemia prevention and its clinical management.【Methods】A cross-sectional field study was conducted among patients with hepatic GSD treated in the Department of Pediatrics of Guangdong Provincial People's Hospital on July 14,2024.We collected the peripheral blood samples of the patients and their healthy family controls on site,then analyzed and compared their blood glucose and biochemical indicators.【Results】Of the 44 patients with hepatic GSD,there were 34 males and 10 females,including GSD Ib(n=14),GSD Ia(n=15),GSDⅢ(n=2),GSDⅥ(n=7)and GSDⅨ(n=6).The average age was 7.60(5.08-11.98)years.All patients were on uncooked cornstarch(UCCS)therapy.Of the patients,77.3%(34/44)had hepatomegaly,61.4%(27/44)had recurrent hypoglycemia,61.4%(27/44)had blood glucose≤3.9 mmol/L,18.2%(8/44)had blood glucose≤2.8 mmol/L,and none of the 8 cases was GSD Ib.The lowest blood glucose level was 1.19 mmol/L and no episodes of hypoglycemia occurred.Of the family control subjects,65.9%(29/44)had blood glucose≤3.9 mmol/L.There was no significant difference in hypoglycemia prevalence between hepatic GSD group and control group(P=0.658).The hepatic GSD patients had hyperlactacemia,hyperuricemia and hypercholesterolemia prevalence rates of 65.9%,45.5%and 9.1%,respectively,as compared with 18.2%,43.2%and 15.9%,respectively,for the family control subjects.No significant difference was found in the prevalence rates of hyperuricemia and hypercholesterolemia between the two groups(P=0.830 and P=0.334,respectively).【Conclusions】Asymptomatic hypoglycemia is common in patients with hepatic GSD,especially in non-GSD-Ib patients.It is necessary to optimize the diet management of UCCS,conduct dynamic blood glucose monitoring and follow a light diet,so as to decrease hype

关 键 词：肝糖原贮积病 低血糖 血生化指标 横断面调查 儿童 家庭对照 

分 类 号：R725.8[医药卫生—儿科]