Summary
Definition
History and exam
Key diagnostic factors
- idade pós-puberal
- história familiar positiva de síndrome de Gilbert
- icterícia
- ausência de hepatoesplenomegalia
- ausência de estigmas de doença hepática crônica
Risk factors
- idade pós-puberal
- história familiar de síndrome de Gilbert
- diabetes mellitus do tipo 1
Diagnostic investigations
1st investigations to order
- bilirrubina não conjugada
- aminotransferases hepáticas
- gamaglutamil transpeptidase
- lactato desidrogenase
- Hemograma completo
- esfregaço de sangue periférico
- teste de Coombs direto
Investigations to consider
- biópsia hepática
- resposta da bilirrubina não conjugada plasmática ao jejum
- resposta da bilirrubina não conjugada plasmática ao ácido nicotínico
- genotipagem do UGT1A1
- atividade enzimática da UDPGT
Treatment algorithm
todos os pacientes
Contributors
Authors
Nathalie Khoury, MD
Clinical Fellow - Transplant Hepatology
University of Nebraska Medical Center
Omaha
NE
Disclosures
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
Disclosures
MAOM declares that he has no competing interests.
Acknowledgements
Dr Marco A. Olivera-Martinez would like to gratefully acknowledge Dr Brian Ward and Dr John L. Gollan, the previous contributors to this topic.
Disclosures
BW declares that he has no competing interests. JLG is an author of a reference cited in the topic.
Peer reviewers
Lefkothea P. Karaviti, MD, PhD
Professor of Pediatrics
Division of Endocrinology and Metabolism
Baylor College of Medicine
Texas Children's Hospital
Houston
TX
Disclosures
LPK declares that she has no competing interests.
John T. Jenkins, MB, CHB, FRCP
Consultant Surgeon
St. Mark's Hospital
London
UK
Disclosures
JTJ declares that he has no competing interests.
References
Key articles
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.Full text Abstract
King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. Abstract
Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Hemólise
- Cirrose
- Doença cardíaca (por exemplo, cardiopatia congênita e valvopatia cardíaca)
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