小结
定义
吉尔伯特综合征是一种轻度、非溶血性、高非结合胆红素血症，定义为胆红素水平＜102 μmol/L（＜6 mg/dL）。这是一种遗传性疾病，因尿苷二磷酸葡萄糖醛酸转移酶（uridine-diphosphoglucuronate glucuronosyltransferase, UDPGT）的水平降低，导致胆红素的结合受损。[Figure caption and citation for the preceding image starts]: 右侧的患者出现黄疸，类似于严重吉尔伯特综合征引起的黄疸由 John L. Gollan 医生提供 [Citation ends].
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
危险因素
- 青春期后的年龄
- GS 家族史
- 1 型糖尿病
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
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
治疗流程
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.
鉴别诊断
- 溶血
- 肝硬化
- 心脏疾病（例如先天性心脏病和瓣膜性心脏病）
更多 鉴别诊断
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