Brentuximab vedotin related neuropathy in a patient with Gilbert syndrome: Do mutations of UGT1A1 gene affect brentuximab toxicity?

2021 ◽  
Author(s):  
Nicole Diebert ◽  
Katherine Baker ◽  
Karen S. Fernández
Keyword(s):  
Brentuximab Vedotin ◽  
Ugt1a1 Gene ◽  
Gilbert Syndrome

scholarly journals Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II

Medicine ◽  
2017 ◽  
Vol 96 (45) ◽  
pp. e8620 ◽  
Author(s):  
Lei Sun ◽  
Man Li ◽  
Liang Zhang ◽  
Xiaoying Teng ◽  
Xiangmei Chen ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Chinese Patients ◽  
Syndrome Type ◽  
Type Ii ◽  
Ugt1a1 Gene ◽  
Gilbert Syndrome ◽  
Liver Changes

scholarly journals Identifying UGT1A1 gene mutations in Vietnamese patients with Gilbert syndrome

2021 ◽  
Vol 63 (2) ◽  
pp. 16-20
Author(s):  
Thi Thanh Hoa Nguyen ◽  
◽  
Quang Lieu Dau ◽  
Dang Ton Nguyen ◽  
Hai Ha Nguyen ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Promoter Region ◽  
Gene Mutations ◽  
Tata Box ◽  
Enzyme Expression ◽  
Ugt1a1 Gene ◽  
Gilbert Syndrome ◽  
Pathogenic Variants ◽  
Bilirubin Metabolism ◽  
Different Populations

Gilbert’s syndrome (GS) is the most common inherited disorder of bilirubin metabolism, non-lethal, affecting 3-12% of the population. The genetic variants of the UDP- glucuronosyltransferase 1A1 (UGT1A1) gene might reduce the gene transcription activity and its enzyme expression, which affects the ability to conjugate glucuronidation in the liver. This study aimed to identify genetic variants of UGT1A1 in two Vietnamese sibling brothers with jaundice manifestations suspected GS. The peripheral blood samples of patients were used to extract genome DNA and sequence the enhancer, promoter, and coding all five exons of UGT1A1. Two pathogenic variants c.-3279T>G located in the phenobarbital responsive enhancer module (gtPBREM) and A(TA)7TAA of the TATA box in the promoter region were identified. They are twice common pathogenic variants that were reported in almost hyperbilirubinemia individuals from different populations. The obtained results improved the accuracy of medical diagnosis and warned the patients to be cautious in case they have to use medical drugs in the future.

scholarly journals GALLSTONE DISEASE WITH UNCONJUGATED HYPERBILIRUBINEMIA: CLINICAL APPROACH TO GILBERT’S SYNDROME

2019 ◽  
Vol 6 (2) ◽  
Author(s):  
Suneed Kumar ◽  
Sneha Jha ◽  
Anshuman Pandey ◽  
Shibumon M Madhavan ◽  
Dinesh Kumar ◽  
...  
Keyword(s):  
High Risk ◽  
Gallstone Disease ◽  
Clinical Approach ◽  
Patient Counselling ◽  
Unconjugated Hyperbilirubinemia ◽  
Gilbert’S Syndrome ◽  
Ugt1a1 Gene ◽  
Management Algorithm ◽  
Gilbert Syndrome ◽  
Gilbert's Syndrome

Gallstones are the commonest ailment affecting the hepato-biliary system. Associated jaundice is usually direct, commonly due to biliary obstructive lesions. Unconjugated hyperbilirubinemia with cholelithiasis is commonly seen with hemolytic disease. In the absence of hemolysis or systemic causes, congenital causes prevail, commonest of which is Gilbert’ Syndrome. This study aims to ascertain a clinical approach to the patient of gallstones with Gilbert’s syndrome. This is retrospective study of 58 patients with gallstone associated unconjugated hyperbilirubinemia, who underwent surgery over a two-year period. Patients underwent repeat blood investigations and ultrasound to confirm the diagnosis. Obstructive biliary pathology was ruled out by MRCP images; EUS added if indicated. The remaining patients underwent genetic test for Gilbert’s syndrome – namely UGT1A1 gene assessment by PCR. All patients underwent laparoscopic cholecystectomy as routine; with addition of intra-operative liver biopsy. Sixteen of the 58 patients were short-listed to be high risk factors for harboring Gilbert’s syndrome after ruling out other systemic causes. On gene study, 14 patients tested positive for UGT1A1 gene, hence Gilbert’s syndrome. The other two were kept on follow up for jaundice recurrence in future. The management algorithm is depicted as flowchart. Gilbert’s syndrome can be identified in select “high-risk” individuals presenting with gallstone disease. Genetic testing is gold standard, and helps in effective management and better patient counselling.

scholarly journals A NEW CASE OF (TA)8 ALLELE IN THE UGT1A1 GENE PROMOTER IN A CAUCASIAN GIRL WITH GILBERT’ SYNDROME

2004 ◽  
Vol 21 (5) ◽  
pp. 371-374 ◽  
Author(s):  
Henrique Coelho ◽  
Elísio Costa ◽  
Emília Vieira ◽  
Rosa Branca ◽  
Rosário dos Santos ◽  
...  
Keyword(s):  
Gene Promoter ◽  
Ugt1a1 Gene ◽  
Gilbert Syndrome ◽  
Caucasian Girl

scholarly journals Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects

2012 ◽  
Vol 48 (3) ◽  
pp. 166-172 ◽  
Author(s):  
Carina Rodrigues ◽  
Emília Vieira ◽  
Rosário Santos ◽  
João de Carvalho ◽  
Alice Santos-Silva ◽  
...  
Keyword(s):  
Healthy Subjects ◽  
Total Bilirubin ◽  
Gene Variants ◽  
Ugt1a1 Gene ◽  
Gilbert Syndrome

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.

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