Gilbert's syndrome overview: Difference between revisions
Created page with "__NOTOC__ {{Gilbert's syndrome}} {{CMG}} ==Overview== '''Gilbert's syndrome''' (pr. Zhil-bear), often shortened to the acronym GS, is the most common hereditary cause of ..." |
|||
(6 intermediate revisions by 2 users not shown) | |||
Line 4: | Line 4: | ||
==Overview== | ==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 [[Conjugated system|conjugates]] bilirubin and some other lipophilic molecules. | The source of this hyperbilirubinemia is reduced activity of the [[enzyme]] [[glucuronyltransferase]] which [[Conjugated system|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.<ref>{{WhoNamedIt|synd|2877|Gilbert's syndrome}}</ref><ref>Gilbert A, Lereboullet P. La cholemie simple familiale. ''Sem Med'' 1901;21:241-3.</ref> In German literature, it is commonly associated with Jens Einar Meulengracht.<ref>{{WhoNamedIt|doctor|2449}}</ref> | |||
==Pathophysiology== | |||
Gilbert's syndrome is caused by approximately 30%-50% reduced [[glucuronidation]] activity of the enzyme [[glucuronosyltransferase|Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1)]].<ref>{{cite journal|author=Raijmakers MT, Jansen PL, Steegers EA, Peters WH|title=Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene|journal=Journal of Hepatology|year=2000|volume=33|issue=3|pages=348-351|id=PMID 11019988}}</ref><ref>{{cite journal | author=Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al. | title=The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. |journal=New England Journal of Medicine| volume=333 | issue=18 | pages=1171-5 | year=1995 | id=PMID 7565971}}</ref> The gene which encodes UGT1A1 normally has a [[promoter region]] [[TATA box]] containing the [[allele]] A(TA<sub>6</sub>)TAA. Gilbert's syndrome is associated with [[homozygous]] A(TA<sub>7</sub>)TAA alleles.<ref>{{cite journal | author=Monaghan G, Ryan M, Seddon R, Hume R, Burchell B | title=Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. | journal=Lancet | volume=347 | issue=9001 | pages=578-81 | year=1996 | id=PMID 8596320}}</ref> 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== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category: | |||
[[Category:Gastroenterology]] | |||
[[Category:Hepatology]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Syndromes]] | |||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category: | [[Category:Metabolic disorders]] |
Latest revision as of 05:03, 27 February 2013
Gilbert's Syndrome Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Gilbert's syndrome overview On the Web |
American Roentgen Ray Society Images of Gilbert's syndrome overview |
Risk calculators and risk factors for Gilbert's syndrome overview |
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.