Gilbert's syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Gilbert's syndrome (pr. Zhil-bear), often shortened to the acronym GS, is the most common hereditary cause of increased bilirubin, and is found in up to 5% of the population. The main symptom is otherwise harmless jaundice which does not require treatment, caused by elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia).
The source of this hyperbilirubinemia is reduced activity of the enzyme glucuronyltransferase which conjugates bilirubin and some other lipophilic molecules. Conjugation renders the bilirubin water-soluble and suitable for excretion via the kidneys.
Historical Perspective
Gilbert's syndrome was first described by French gastroenterologist Augustin Nicolas Gilbert and co-workers in 1901.[1][2] In German literature, it is commonly associated with Jens Einar Meulengracht.[3]
Pathophysiology
Gilbert's syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).[4][5] The gene which encodes UGT1A1 normally has a promoter region TATA box containing the allele A(TA6)TAA. Gilbert's syndrome is associated with homozygous A(TA7)TAA alleles.[6] The allele polymorphism is referred to as UGT1A1*28.
Epidemiology and Demographics
Gilbert's syndrome affects up to 10% of people in some Caucasian populations. The condition is usually noncancerous (benign).
References
- ↑ Template:WhoNamedIt
- ↑ Gilbert A, Lereboullet P. La cholemie simple familiale. Sem Med 1901;21:241-3.
- ↑ Template:WhoNamedIt
- ↑ Raijmakers MT, Jansen PL, Steegers EA, Peters WH (2000). "Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene". Journal of Hepatology. 33 (3): 348–351. PMID 11019988.
- ↑ Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP; et al. (1995). "The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome". New England Journal of Medicine. 333 (18): 1171–5. PMID 7565971.
- ↑ Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996). "Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome". Lancet. 347 (9001): 578–81. PMID 8596320.