肝糖原贮积病的胃肠道并发症：一项中国全国性调查问卷研究

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

作者信息

Zhang Xiaoyan, Su Zexiong, Wu Jiaxing, Zeng Hanshi, Jiang Xun, Wang Ying, Shen Huiqing, Xie Xiaoli, Xiao Yuan, Tang Qing, Luo Xiaoping, Zhong Xuemei, Chen Huan, Lan Jiaoli, Chen Yongxin, Zeng Xiaolu, Zhang Huiqiong, Li Zhiling, Zhang Yuxin, Yang Min

机构信息

Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.

Department of Pediatrics, The Second Affiliated Hospital, Air Force Military Medical University, Xi'an, 710038, China.

出版信息

Orphanet J Rare Dis. 2025 Jan 28;20(1):41. doi: 10.1186/s13023-025-03570-1.

DOI:10.1186/s13023-025-03570-1

PMID:39875987

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11773708/

Abstract

BACKGROUND

Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.

METHODS

A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022. Expert gastroendoscopists performed endoscopic examinations and evaluations in 10 hospitals. Descriptive statistics were used for analysis.

RESULTS

A total of 315 patients with hepatic GSD were included in the study, including 191 males and 124 females, the median age at diagnosis was 1.42 years (range = 0.08-36.08 years), with a median age of 5.42 years at the time of investigation (range = 0.58-38.08 years). 95% of patients relied on uncooked corn starch (UCCS) for blood glucose maintenance, and the median age of initiation was 18.5 months (range = 4-360 months). The common characteristics of these GSDs were hypoglycemia, lactic acidosis, anemia, liver enlargement, hyperlipidemia, hyperuricemia, and weakness. More than 60% of patients reported gastrointestinal symptom including anorexia, nausea/vomiting, abdominal pain, abdominal bloating, diarrhea, and mucus or bloody stool. The incidence of gastrointestinal symptoms in patients with GSD type Ia, Ib, III, VI and IX were 68%, 68%, 48%, 59% and 48%, respectively. A total of 48 GSD patients underwent gastroenteroscopy, 54% (26/48, 24 patients with type Ib, 1 patient with type Ia and 1 with III) were diagnosed with GSD-associated inflammatory bowel disease (IBD), the endoscopic images showed mucosal edema, erythema, erosions, single or scattered multiple large, deep, round ulcers and strictures, without linear ulcers and cobblestone mucosal lesions.

CONCLUSION

Patients with GSD type Ia, Ib, III, VI and IX had different degrees of gastrointestinal complications, among which patients with type Ia, Ib and III were the most prominent, and the proportion of GSD-Ib patients had a higher proportion of GSD-associated IBD.

摘要

背景

肝糖原贮积病（GSD）是一组由于糖原储存或利用异常所致的先天性代谢紊乱疾病，是具有显著遗传异质性和相似临床表现的复杂疾病。本研究旨在描述Ia型、Ib型、III型、VI型和IX型肝糖原贮积病的胃肠道症状及内镜特征，为病因及治疗提供依据。

方法

2022年5月，通过基因检测，向中国大陆确诊为Ia型、Ib型、III型、VI型和IX型糖原贮积病的患者或其父母发放全国队列调查问卷。10家医院的内镜专家进行了内镜检查和评估。采用描述性统计进行分析。

结果

本研究共纳入315例肝糖原贮积病患者，其中男性191例，女性124例，诊断时的中位年龄为1.42岁（范围=0.08 - 36.08岁），调查时的中位年龄为5.42岁（范围=0.58 - 38.08岁）。95%的患者依靠生玉米淀粉（UCCS）维持血糖，开始使用的中位年龄为18.5个月（范围=4 - 360个月）。这些糖原贮积病的共同特征为低血糖、乳酸酸中毒、贫血、肝脏肿大、高脂血症、高尿酸血症和乏力。超过60%的患者报告有胃肠道症状，包括厌食、恶心/呕吐、腹痛、腹胀、腹泻以及黏液便或血便。Ia型、Ib型、III型、VI型和IX型糖原贮积病患者胃肠道症状的发生率分别为68%、68%、48%、第59%和48%。共有48例糖原贮积病患者接受了胃镜检查，54%（26/48，Ib型24例、Ia型1例、III型1例）被诊断为糖原贮积病相关的炎症性肠病（IBD），内镜图像显示黏膜水肿、红斑、糜烂、单个或散在的多个大而深的圆形溃疡及狭窄，无线性溃疡和鹅卵石样黏膜病变。