Gilbert syndrome

2008 ◽  
Vol 149 (27) ◽  
pp. 1277-1282 ◽  
Author(s):  
Bernadett Faragó ◽  
Béla Melegh
Keyword(s):  
Gilbert Syndrome

Az ismert familiáris, nem konjugált hyperbilirubinaemiák közé tartozó Gilbert-szindróma az átlagpopuláció 7–10%-át érintő benignus kórkép. Tünetei rendszerint aspecifikusak, egyedül az esetlegesen előforduló sárgaság, továbbá az enyhén emelkedett nem konjugált bilirubin szintje utal a rendellenességre. Más laborértékek és a májbiopszia általában nem mutat eltérést a normálistól. A betegség hátterében a legtöbb esetben az UDP-glükuronil-transzferáz gén részleges működészavara áll. A gén azt az enzimet kódolja, amely a bilirubin glükuronsavval való konjugációját segíti. Noha a Gilbert-szindróma diagnosztizálása korábban hagyományos laboratóriumi módszerekkel és családi anamnézis felvételével történt, napjainkban lehetőség van az UDP-glükuronil-transzferáz gén genetikai variánsainak meghatározására. A gén promoterrégiójában, homozigóta formában lévő (TA)-inszerció – (TA) 7 /(TA) 7 – a betegek 80–100%-ában jelen van, és az aktív UDP-glükuronil-transzferáz mennyiségének csökkenéséhez vezet. A kódolórégióban található missense mutációk szerepe még nem teljesen tisztázott, de a (TA) 7 promotervariánssal való együttes előfordulásuk magyarázatul szolgálhat az emelkedett bilirubinszintre és a sárgaságra, valamint a Gilbert-szindróma családi halmozódására.

Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening

2015 ◽  
Vol 62 (7) ◽  
pp. 1195-1201 ◽  
Author(s):  
R. Berrueco ◽  
A. Alonso-Saladrigues ◽  
L. Martorell-Sampol ◽  
A. Català-Temprano ◽  
A. Ruiz-Llobet ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Gilbert Syndrome ◽  
Mutational Screening

scholarly journals Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome

1999 ◽  
Vol 81 (4) ◽  
pp. 301-303 ◽  
Author(s):  
P. Trioche ◽  
J. Chalas ◽  
J. Francoual ◽  
L. Capel ◽  
A. Lindenbaum ◽  
...  
Keyword(s):  
Pyloric Stenosis ◽  
Hypertrophic Pyloric Stenosis ◽  
Gilbert Syndrome ◽  
Early Manifestation

scholarly journals GILBERT SYNDROME IS ASSOCIATED WITH NEONATAL JAUNDICE. • 1809

1996 ◽  
Vol 39 ◽  
pp. 304-304
Author(s):  
John D Bancroft ◽  
Bill Kreamer ◽  
Glenn R Gourley
Keyword(s):  
Neonatal Jaundice ◽  
Gilbert Syndrome

scholarly journals Gilbert Syndrome in a Young Ethiopian Man: First Case Report

2021 ◽  
Vol 31 (1) ◽  
Author(s):  
Amir Sultan ◽  
Kibrewossen Kiflu
Keyword(s):  
Case Report ◽  
Liver Function ◽  
Male Patient ◽  
Liver Function Tests ◽  
Prolonged Fasting ◽  
Unconjugated Hyperbilirubinemia ◽  
Gilbert Syndrome ◽  
Function Tests ◽  
First Case

BACKGROUND፡ Gilbert syndrome is a well-recognized condition causing unconjugated hyperbilirubinemia with otherwise normal transaminases and liver function tests. CASE: A 21 year old male patient presented with recurrent episodes of jaundice over four years. The episodes were preceded by stressful conditions and intercurrent illnesses. All laboratory prameters were normal except an unconjugated hyperbilirubinemia. A diagnosis of Gilbert syndrome was made after careful clinical evaluation.CONCLUSION: Recognizing Gilbert syndrome has important clinical implicaitions by avoiding uncessary and expensive workup of patients with jaundice. Mangement entails avoiding stressful conditions and prolonged fasting. 

Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome

2004 ◽  
Vol 115 (6) ◽  
pp. 525-526 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Carlos D′ Addario ◽  
Asami Mori ◽  
Masaru Iwai ◽  
Hiroko Takahashi ◽  
...  
Keyword(s):  
Gilbert Syndrome

Gilbert Syndrome

2009 ◽  
pp. 698-700
Author(s):  
David J. Timson ◽  
Richard J. Reece ◽  
James B. Thoden ◽  
Hazel M. Holden ◽  
Andrea L. Utz ◽  
...  
Keyword(s):  
Gilbert Syndrome

Coinheritance of Gilbert Syndrome Increases the Risk for Developing Gallstones in Patients With Hereditary Spherocytosis

Blood ◽  
1999 ◽  
Vol 94 (7) ◽  
pp. 2259-2262 ◽  
Author(s):  
Emanuele Miraglia del Giudice ◽  
Silverio Perrotta ◽  
Bruno Nobili ◽  
Claudia Specchia ◽  
Giovanna d’Urzo ◽  
...  
Keyword(s):  
Cox Regression ◽  
Hereditary Spherocytosis ◽  
Mechanical Heart Valve ◽  
Biliary Tree ◽  
Gallstone Formation ◽  
Uridine Diphosphate ◽  
Gilbert Syndrome ◽  
Bilirubin Metabolism ◽  
Chronic Hemolysis ◽  
The Individual

The precocious formation of bilirubinate gallstones is the most common complication of hereditary spherocytosis (HS), and the prevention of this problem represents a major impetus for splenectomy in many patients with compensated hemolysis. Because Gilbert syndrome has been considered a risk factor for gallstone formation, there are reasons for postulating that the association of this common inherited disorder of hepatic bilirubin metabolism with HS could increase cholelithiasis. To test this hypothesis, 103 children with mild to moderate HS who, from age 1, have undergone a liver and biliary tree ultrasonography every year, were retrospectively examined. The 2-bp (TA) insertion within the promoter of the uridine diphosphate-glucuronosyltransferase gene (UGT1A1), associated with Gilbert syndrome, was screened. The risk of developing gallstones was statistically different among the 3 groups of patients: homozygotes for the normal UGT1A1 allele, heterozygotes, and homozygotes for the allele with the TA insertion. Fitting a Cox regression model, in fact, a statistically significant hazard ratio of 2.19 (95% confidence interval: 1.31 to 3.66) was estimated from one to the next of these genetic classes. The individual proneness to form gallstones from TA insertion in the TATA-box of the UGT1A1 promoter should be considered during the follow-up of patients with HS. Although patients with HS were the only ones studied, extrapolating these data to patients who have different forms of inherited (eg, thalassemia, intraerythrocytic enzymatic deficiency) or acquired (eg, autoimmune hemolytic anemia, hemolysis from mechanical heart valve replacement) chronic hemolysis can be warranted.

scholarly journals Contribution of the TATA-Box Genotype (Gilbert Syndrome) to Serum Bilirubin Concentrations in the Italian Population

1999 ◽  
Vol 45 (6) ◽  
pp. 897-898 ◽  
Author(s):  
Maria Luisa Biondi ◽  
Olivia Turri ◽  
Dario Dilillo ◽  
Giorgio Stival ◽  
Emma Guagnellini
Keyword(s):  
Serum Bilirubin ◽  
Tata Box ◽  
Italian Population ◽  
Gilbert Syndrome
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