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Gilbert syndrome

Última revisão: 20 Aug 2025
Última atualização: 10 Dec 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • postpubertal age
  • positive family history of GS
  • icterus (jaundice)
  • absence of hepatosplenomegaly
  • no stigmata of chronic liver disease
Detalhes completos

Fatores de risco

  • postpubertal age
  • family history of GS
  • type 1 diabetes mellitus
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • unconjugated bilirubin
  • liver aminotransferases
  • gamma-glutamyl transpeptidase
  • lactate dehydrogenase
  • CBC
  • peripheral blood smear
  • direct Coombs' test
Detalhes completos

Investigações a serem consideradas

  • liver biopsy
  • plasma unconjugated bilirubin response to fasting
  • plasma unconjugated bilirubin response to nicotinic acid
  • UGT1A1 genotyping
  • UDPGT enzyme activity
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

Nathalie Khoury, MD

Clinical Fellow - Transplant Hepatology

University of Nebraska Medical Center

Omaha

NE

Declarações

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

Раскрытие информации

MAOM declares that he has no competing interests.

Выражение благодарностей

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

Раскрытие информации

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

Рецензенты

Lefkothea P. Karaviti, MD, PhD

Professor of Pediatrics

Division of Endocrinology and Metabolism

Baylor College of Medicine

Texas Children's Hospital

Houston

TX

Раскрытие информации

LPK declares that she has no competing interests.

John T. Jenkins, MB, CHB, FRCP

Consultant Surgeon

St. Mark's Hospital

London

UK

Раскрытие информации

JTJ declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Список литературы

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Основные статьи

Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5.Полный текст  Аннотация

King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. Аннотация

Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Полный текст  Аннотация

Статьи, указанные как источники

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