Gilbert’s Syndrome: Terminology, Epidemiology, Genetics, Pathogenesis (Part I)
Journal Title: Здоров`я дитини - Year 2016, Vol 8, Issue 76
Abstract
The aim of the review was the analysis of the literature about the prevalence, etiology, genetics and pathogenesis of Gilbert’s syndrome (GS). The scientific literature regarding GS with the keywords «Gilbert's syndrome», «hyperbilirubinemia», «uridine diphosphate glucuronosyltransferase (UGT-1A)» using PubMed as a search engine was reviewed. The abstracts of 75 articles, based on investigations held within the last 10 years were analyzed. The criterion for the selection of articles for the study was based on their close relevance to the topic. The results of researches covered in 10 articles and two reports were of the top interest and deep study. In medical literature GS is described under the names of different syndromes: Gilbert’s syndrome, Meulengracht’s syndrome, Gilbert — Meulengracht syndrome, Gilbert — Lereboullet syndrome, and also such as: constitutional hepatic dysfunction, familial nonhemolytic jaundice, Gilbert’s type of hyperbilirubinemia, idiopathic unconjugated hyperbilirubinemia, Crigler — Najjar hyperbilirubinemia, Arias’ type (HBLRCN, hyperbilirubinemia I). GS is a predominantly hereditary unconjugated hyperbilirubinemia associated with the reduced activity of uridine diphosphate glucuronosyltransferase (UGT-1A) in liver, which is encrypted in external resources as ICD-10 — E80.4; OMIM — 143500; DiseasesDB — 5218; MedlinePlus — 000301; eMedicinemed — 870; MeSHD — 005878. UGT-1A isoforms are found in different parts of the gastrointestinal tract (UGT1A1, UGT1A3, UGT1A4, UGT1A6), in the liver — UGT1A9, in the esophagus and stomach — UGT1A7, in the esophagus and intestines — UGT1A8, in the esophagus, bile ducts, stomach, intestines — UGT1A10, in kidneys — UGT1A19. The patients with GS have signs of disorders in all phases of metabolism of bilirubin — from its production to excretion: the lack of bilitranslocase which is responsible for the capture of bilirubin from the blood and its transport to hepatocytes, the deficit of Y- and Z-protein ligand (glutathione-S-transferase enzyme), responsible for transport of bilirubin to microsomes, the deficiency of UGT-1A, which provides the transfer of glucuronic acid to bilirubin. The prevalence of the mutant gene in European countries reaches 35–40 %, in certain ethnic groups in Africa more than 50 %, in Asian countries it is slightly lower (16–33 %). The prevalence of GS in Ukraine has not been studied. The ratio of male and female patients with GS is 3–4 : 1. The main reason of the lack of the enzyme is mutation of the gene encoding UGT1A1, however, the other factors are also responsible for the development of the syndrome and manifestation of its symptoms (male gender, additional gene mutations: c.993 (p.Q331H); *6 (c.211G > A); (nt-211, nt-686, nt-1,091 and nt-1456). The specific polymorphism in candidate genes was identified (SLCO1B3 ABCC2 and NUP153). The histological and ultrastructural features of GS include normal hepatic lobules and deposition of bile pigment granules in hepatocytes. Signs of the hepatosis are seen at later terms and serve as evidence of the evolution of the disease.
Authors and Affiliations
T. V. Sorokman, O. -M. V. Popeliuk, O. V. Makarova
Keywords
Related Articles
- EP ID EP181922
- DOI 10.22141/2224-0551.8.76.2016.90830
- Views 103
- Downloads 0
Arterial Hypertension in Adolescents: Factors of Stabilization and Progression
Based on survey data of 120 adolescents with arterial hypertension it was found that with the growth of their body mass index, severity and incidence of endothelial dysfunction disorders increased (in samples of endothel...
Optimization of Physical Activity among Children and Adolescents in the Campaign to End Childhood Obesity
The paper provides a review of current regulatory documents of international organizations, which deals with the organizational aspects of optimizing physical activity among children. It is shown that according to the Wo...
Rational Antibacterial Therapy of Respiratory Diseases in children
This article presents the results of bacteriological monitoring of 563 children from Zaporizhzhya and Zaporizhzhya region suffering from acute respiratory infections (ARI). 15.3 % cases ARI was caused by Streptococcus pn...
A modern understanding of the surfactant protein mutations role in the formation of interstitial lung diseases in newborns and infants
The article presents a modern understanding of the components of the surfactant, the functions of non-serum proteins SP-A, SP-B, SP-C and SP-D. The history of the discovery of protein deficiencies SP-B, SP-C and ABCA3 is...
The influence of psycho-emotional stress in children of primary school age on the incidence of recurrent upper respiratory tract infections and the functional state of the myocardium
Background. Scientific and technical progress, intensification of educational process and information overload have a negative effect on unformed central nervous system of primary schoolchildren, causing stress, which af...