Gilbert syndrome

Gilbert syndrome is a hereditary condition which can result in jaundice.

Pathology

It is results in intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. Uridine diphosphate-glucuronyl transferase activity is reduced resulting in indirect hyperbilirubinemia. 

Genetics

It carries an autosomal dominant inheritance with incomplete penetrance. The most frequently observed genotype is a polymorphism of the promoter of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene, specifically known as UGT1A1*28 1.

Treatment and prognosis

No treatment is required as Gilbert syndrome is a benign entity 1.

History and etymology

Gilbert syndrome was first described in 1901 by the French physician Nicolas Augustin Gilbert (1858-1927) 1,3.

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Article information

rID: 61748
Synonyms or Alternate Spellings:
  • Gilbert's syndrome

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