DOI: https://doi.org/10.22141/2224-0551.12.2.1.2017.100984

Gilbert’s syndrome targeted therapy

O.M. Вabadzhanian, O.V. Shutova, L.G. Voloshyna, O.B. Hanzii, Abbas Kaafarani, O.L. Slobodianiuk

Abstract


The article presents the diagnostic criteria and clinical features of Gilbert’s syndrome. The results of clinical studies and observations on the use of ursodeoxycholic acid preparation for targeted therapy of children with Gilbert’s syndrome were considered.


Keywords


targeted therapy; Gilbert’s syndrome; ursodeoxycholic acid

References


Gilbert A, Lereboullet P. La cholémie simple familial. Semaine médicale ​(Paris), 1901;21:241-3.

Sorokman TV, Popeljuk O-MV, Makarova OV. Gilbert's syndrome: terminology, epidemiology, genetics, pathogenesis. Child’s health. 2016;8(76):82-5. (In Ukranian). doi: 10.22141/2224-0551.8.76.2016.90830.

Gerok V, Blum HE. Liver and biliary disease systems. Moscow: MEDpress-inform, 2009.

Piter J, Bosma UA. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. New England Journal of Medicine. 1995;18:1171-5. doi: 10.1056/NEJM199511023331802.

Shiu TY, Huang HH, Lin HH, Shih YL, Chu HC, Chang WK, Hsieh TY. Restriction fragment length polymorphism effectively identifies exon 1 mutation of UGT1A1 gene in patients with Gilbert’s Syndrome. Liver. Int. 2015 Aug;35(8):2050-6. doi: 10.1111/liv.12785.

Hu RT, Wang NY, Huang MJ, Huang CS, Chen DS, Yang SS. Multiple variants in UGT1A1 gene are factors to develop indirect hyper-bilirubinemia. Hepatobiliary Surg. Nutr. 2014 Aug;3(4):194-8. doi: 10.3978/j.issn.2304-3881.2014.08.04.

Mlakar V, Mlakar SJ, Marc J, Ostanek B. Preparation of reference material for UGT1A1 (TA)n polymorphism genotyping. Clin Chim Acta. 2014 Aug 5;435:24-8. doi: 10.1016/j.cca.2014.04.018.

Strassburg CP. Gilbert-Meulengracht’s syndrome and pharmacogenetics: is jaundice just the tip of the iceberg? Drug Metabolism Reviews. 2010;42(1):168-81. doi: 10.3109/03602530903209429.

Kringen MK, Piehler AP, Grimholt RM, Opdal MS, Haug KB, Urdal P. Serum bilirubin concentration in healthy adult North-Europeans is strictly controlled by the UGT1A1 TA-repeat variants. Plos one. 2014 February;28(10):1643-7. doi: 10.1371/journal.pone.0090248.

Skierka J.M., Kotzer K.E., Lagerstedt S.A., O’Kane D.J., Baudhuin L.M. UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia. J Pediatr. 2013 Jun;162(6):1146-52.e2. doi: 10.1016/j.jpeds.2012.11.042.

Skrypnik IN, Maslova AS. Bening hyperbilirubinemias. Novosti mediciny i farmacii (Gastrojenterologija). 2012;18(431). (In Russian).

Gubergric NB. Bening hyperbilirubinemias: are they always absolutely bening? Novosti mediciny i farmacii. 2011;21-22(393-394). (In Russian).

Dubrovina GM., Botvin'ev OK., Kolotilina AI. The combination of Gilbert's syndrome with diseases of the gastrointestinal tract. Rossijskij zhurnal gastrojenterologii, gepatologii, koloproktologii. 2014;3:13-21. (In Russian).

Liu Hua, Dongping Shi, Bishop PR, Gosche J, May WL, Nowicki MJ. The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis. Pediatr Res 2005;58:881-4. doi:10.1203/01.pdr.0000183372.23726.ca.

Kathemann S, Lainka E, Baba HA, Hoyer PF, Gerner P. Gilbert's syndrome - a frequent cause of unconjugated hyperbilirubinemia in children after orthotopic liver transplantation. Pediatr Transplant. 2012;16(2):201-4. PMID: 22360405. doi: 10.1111/j.1399-3046.2012.01662.x.

Cobelli C, Ruggeri A, Toffolo G, et al. BSP vs bilirubin kinetics in Gilbert's syndrome. In: Okolicsanyl L., ed. Familial hyperbilirubinemia. New York: Wiley, 1981. 121 p.

De Vries HS, Те Morsche RH, Jenniskens K, Peters WH, de Jong DJ. A functional polymorphism in UGT1A1 related to hyperbilirubinemia is associated with a decreased risk for Crohn's disease. J Crohns Colitis. 2012;6(5):597-602. PMID: 22398043. doi: 10.1016/j.crohns.2011.11.010.

Vitek L, Jirsa M, Brodanova M, et al. Gilbert's syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels. Atherosclerosis 2002 Feb;160(2):449-56. PMID: 11849670.

Lin JP, O'Donnell CJ, Schwaiger JP, et al. Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study. Circulation 2006 Oct; 114(14):1476-81. PMID: 17000907. doi: 10.1161/CIRCULATIONAHA.106.633206.

Maeda Y, Inoguchi T. Oxidative stress and chronic inflammation. Nihon Rinsho 2010; 68(5):814-8. (In Japanese). PMID: 27266065.

Zucker SD, Horn PS, Sherman KE. Serum bilirubin levels in the U.S. population: gender effect and inverse correlation with colorectal cancer. Hepatology 2004; 40(4):827-35. PMID: 15382174. doi: 10.1002/hep.20407.




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