最近审阅: 30 九月 2020
最近更新: 29 一月 2020

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

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)
更多 首要检查

需考虑的检查

  • 胰高血糖素刺激试验
  • 基因检测
  • 肝脏活检
更多 需考虑的检查

治疗流程

进行中

撰稿人

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.

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.

同行评议者展开全部内容

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.

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.

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