User:Mr. Ibrahem/Gilbert's syndrome
| Gilbert's syndrome | |
|---|---|
| Other names | Meulengracht syndrome, Gilbert-Lereboullet syndrome, hyperbilirubinemia Arias type, hyperbilirubinemia type 1, familial cholemia, familial nonhemolytic jaundice[1][2] |
 | |
| Bilirubin | |
| Pronunciation | |
| Specialty | Gastroenterology |
| Symptoms | None, slight jaundice[1] |
| Complications | Usually none[1] |
| Causes | Genetic[1] |
| Differential diagnosis | Crigler–Najjar syndrome, Rotor syndrome, Dubin–Johnson syndrome[2] |
| Treatment | None typically needed[1] |
| Frequency | 2-7%[3] |
Gilbert's syndrome (GS) is a mild inherited liver condition which does not usually cause any harm.[3] There are generally no symptoms.[1] Occasionally a slight yellowish color of the skin or whites of the eyes may occur, particularly during any other illness.[1] Rarely, there maybe tiredness, weakness, and abdominal pain.[1] It is often not noticed until late childhood to early adulthood.[2]
In Gilbert's syndrome the liver does not properly process bilirubin.[1] It is due to a mutation in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme.[1][4] It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of mutation.[4] Episodes of jaundice may be triggered by stress such as exercise, menstruation, or not eating.[4] Diagnosis is based on higher levels of unconjugated bilirubin in the blood without either signs of other liver problems or red blood cell breakdown.[2][4]
Typically no treatment is needed.[1] If jaundice is significant, phenobarbital may be used.[1] Gilbert's syndrome affects 2 to 7% of people.[3] 5 to 15% of affected people have a family history of jaundice.[3] Males are more often diagnosed than females.[1] The condition was first described in 1901 by Augustin Nicolas Gilbert.[2][5]
References[edit]
- ^ a b c d e f g h i j k l m "Gilbert syndrome". GARD. 2016. Archived from the original on 4 August 2017. Retrieved 2 July 2017.
- ^ a b c d e "Gilbert Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 20 February 2017. Retrieved 2 July 2017.
- ^ a b c d Foster, Graham; O'Brien, Alastair (2020). "34. Liver disease". In Feather, Adam; Randall, David; Waterhouse, Mona (eds.). Kumar and Clark's Clinical Medicine (10th ed.). Elsevier. p. 1272. ISBN 978-0-7020-7870-5.
- ^ a b c d "Gilbert syndrome". Genetics Home Reference. 27 June 2017. Archived from the original on 27 June 2017. Retrieved 2 July 2017.
- ^ "Whonamedit – dictionary of medical eponyms". www.whonamedit.com. Archived from the original on 18 September 2016. Retrieved 2 July 2017.