Gilbert syndrome
Summary
Definition
History and exam
Key diagnostic factors
- postpubertal age
- positive family history of GS
- icterus (jaundice)
- absence of hepatosplenomegaly
- no stigmata of chronic liver disease
Risk factors
- postpubertal age
- family history of GS
- type 1 diabetes mellitus
Diagnostic tests
1st tests to order
- unconjugated bilirubin
- liver aminotransferases
- gamma-glutamyl transpeptidase
- lactate dehydrogenase
- CBC
- peripheral blood smear
- direct Coombs' test
Tests to consider
- liver biopsy
- plasma unconjugated bilirubin response to fasting
- plasma unconjugated bilirubin response to nicotinic acid
- UGT1A1 genotyping
- UDPGT enzyme activity
Algoritmo de tratamento
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
Declarações
MAOM declares that he has no competing interests.
Agradecimentos
Dr Marco A. Olivera-Martinez would like to gratefully acknowledge Dr Brian Ward and Dr John L. Gollan, the previous contributors to this topic.
Declarações
BW declares that he has no competing interests. JLG is an author of a reference cited in the topic.
Revisores
Lefkothea P. Karaviti, MD, PhD
Professor of Pediatrics
Division of Endocrinology and Metabolism
Baylor College of Medicine
Texas Children's Hospital
Houston
TX
Declarações
LPK declares that she has no competing interests.
John T. Jenkins, MB, CHB, FRCP
Consultant Surgeon
St. Mark's Hospital
London
UK
Declarações
JTJ declares that he has no competing interests.
Créditos aos pareceristas
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Declarações
As afiliações e declarações dos pareceristas referem--se ao momento da revisão.
Referências
Principais artigos
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.Texto completo Resumo
King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. Resumo
Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Texto completo Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Hemolysis
- Cirrhosis
- Cardiac disease (e.g., congenital heart disease and valvular heart disease)
Mais Diagnósticos diferenciais
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