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吉尔伯特综合征

最后审阅: 21 Oct 2024
最后更新: 06 Sep 2022

小结

定义

病史和体格检查

关键诊断因素

  • 青春期后的年龄
  • GS 阳性家族史
  • 黄疸
  • 无肝脾肿大
  • 无慢性肝病的皮肤红斑
完整详情

危险因素

  • 青春期后的年龄
  • GS 家族史
  • 1 型糖尿病
完整详情

诊断性检查

首要检查

  • 非结合的胆红素
  • 肝脏氨基转移酶
  • γ-谷氨酰转肽酶
  • 乳酸脱氢酶
  • 全血细胞计数 (FBC)
  • 外周血涂片
  • 直接 Coombs 试验
完整详情

需考虑的检查

  • 肝脏活检
  • 血浆未结合胆红素是对禁食的应答
  • 血浆未结合胆红素是对烟酸的应答
  • UGT1A1 基因分型
  • UDPGT 酶活性
完整详情

治疗流程

持续性治疗

所有患者

撰稿人

作者

Nathalie Khoury, MD

Clinical Fellow - Transplant Hepatology

University of Nebraska Medical Center

Omaha

NE

利益声明

NK declares that she has no competing interests.

Marco A. Olivera-Martinez, MD, FACP, FAASLD

Professor of Medicine

Gastroenterology & Hepatology

University of Nebraska Medical Center

Omaha

NE

利益声明

MAOM declares that he has no competing interests.

鸣谢

Dr Marco A. Olivera-Martinez would like to gratefully acknowledge Dr Brian Ward and Dr John L. Gollan, the previous contributors to this topic.

利益声明

BW declares that he has no competing interests. JLG is an author of a reference cited in the topic.

同行评议者

Lefkothea P. Karaviti, MD, PhD

Professor of Pediatrics

Division of Endocrinology and Metabolism

Baylor College of Medicine

Texas Children's Hospital

Houston

TX

利益声明

LPK declares that she has no competing interests.

John T. Jenkins, MB, CHB, FRCP

Consultant Surgeon

St. Mark's Hospital

London

UK

利益声明

JTJ declares that he has no competing interests.

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