BMJ Best Practice
最后审核时间： 十月 2018
最近更新时间： 一月 2018

小结

定义

病史和查体

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
全部具体信息

其他诊断因素

  • 过度呼吸
  • 生长不良
  • 嗜睡
  • 肌张力低
全部具体信息

危险因素

  • 家族史
全部具体信息

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
全部具体信息

需要考虑的检查

  • 胰高血糖素激发试验
  • 基因检测
  • 肝组织活检
全部具体信息

治疗流程

疾病持续状态

所有患者

贡献者

作者 查看所有

Professor of Pediatrics

Harvard Medical School

Division of Endocrinology

Boston Children's Hospital

Boston

MA

利益冲突披露
JIW is an author of a number of references cited in this monograph. He is also a section editor of Pediatric Endocrinology for UpToDate, for which he receives royalties.

Assistant Professor of Pediatrics

Tufts University School of Medicine

Barbara Bush Children's Hospital

Portland

ME

利益冲突披露
MAD declares that he has no competing interests.

同行评议专家 查看所有

Consultant and Honorary Reader in Inherited Metabolic Disease

Charles Dent Metabolic Unit

National Hospital for Neurology and Neurosurgery

Queen Square

London

UK

利益冲突披露
PL declares that he has no competing interests.

Director

Glycogen Storage Disease Program

University of Florida College of Medicine

Gainesville

FL

利益冲突披露
DAW declares that he has no competing interests.

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