Citation, DOI & article data
Gilbert syndrome is a hereditary condition which can result in jaundice.
It results in intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. Uridine diphosphate-glucuronyl transferase activity is reduced resulting in indirect hyperbilirubinemia.
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.
- 1. Fretzayas A, Moustaki M, Liapi O, Karpathios T. Gilbert syndrome. (2012) European journal of pediatrics. 171 (1): 11-5. doi:10.1007/s00431-011-1641-0 - Pubmed
- 2. Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. (1999) Journal of gastroenterology and hepatology. 14 (10): 960-6. Pubmed
- 3. Dorland. Dorland's Illustrated Medical Dictionary. (2011) ISBN: 9781416062578