小结
定义
病史和体格检查
关键诊断因素
- I型糖原贮积病家族史
- 频繁的喂养
- 肝肿大
- 腹部膨隆
其他诊断因素
- 过度呼吸
- 生长迟缓
- 昏睡
- 肌张力过低
- 出血倾向
- 发育延迟
- 恶心和呕吐
- 惊厥
- 库欣样外表
- 发疹性黄瘤
危险因素
- 家族史
诊断性检查
首要检查
- 血清葡萄糖
- 血清碳酸氢盐
- 血清乳酸
- 血清尿酸
- 血清甘油三酯
- 肝功能（天冬氨酸转氨酶和/或丙氨酸氨基转移酶）
需考虑的检查
- 胰高血糖素刺激试验
- 基因检测
- 肝脏活检
治疗流程
所有患者
撰稿人
作者
Joseph I. Wolfsdorf, MB, BCh, DCH, FCP, FAAP
Professor of Pediatrics
Harvard Medical School
Division of Endocrinology
Boston Children's Hospital
Boston
MA
利益声明
JIW is an author of a number of references cited in this topic. He is also a section editor of Pediatric Endocrinology for UpToDate, for which he receives royalties. JIW has received consulting fees for serving on the data safety monitoring board for clinical trials performed by Ultragenyx and Xeris pharmaceuticals.
Michael A. Dedekian, MD
Assistant Professor of Pediatrics
Tufts University School of Medicine
Barbara Bush Children's Hospital
Portland
ME
利益声明
MAD declares that he has no competing interests.
同行评议者
David A. Weinstein, MD, MMSc
Director
Glycogen Storage Disease Program
University of Florida College of Medicine
Gainesville
FL
利益声明
DAW declares that he has no competing interests.
Philip Lee, MBBS
Consultant and Honorary Reader in Inherited Metabolic Disease
Charles Dent Metabolic Unit
National Hospital for Neurology and Neurosurgery
Queen Square
London
UK
利益声明
PL declares that he has no competing interests. We have since been made aware that Dr Philip Lee is deceased.
鉴别诊断
- 糖原贮积病 III(GSD III)
- 糖原贮积病VI和IX(GSD VI 和IX)
- 糖原贮积病 XI(GSD XI)
更多 鉴别诊断指南
- 糖原贮积病 I 型的诊断和治疗
- 糖原贮积病I型的治疗指南
更多 指南
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