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