ОСОБЕННОСТИ СИНДРОМА ЖИЛЬБЕРА У БОЛЬНЫХ С РАЗЛИЧНЫМИ ГЕНОТИПАМИ UGT1A1

The aim: to evaluate the clinical manifestations and data of instrumental methods in patients with Gilbert's syndrome and different genotype UGT1A1. Materials and methods: Clinical manifestations and results of instrumental methods were studies in 104 patients with Gilbert's syndrome (UGT1A1 gene mutation rs8175347), including 75 with the homozygous variant (genotype 7ТА*7ТА) and 29 - with heterozygous variant (genotypes 6ТА*7ТА or 6ТА*8ТА). Results: The most frequent clinical manifestation was asthenovegetative syndrome. The promoter of the appearance/intensification of jaundice were physical activity, stress and viral infections. Homozygotes exhibit an earlier manifestation of the disease, higher rates of bilirubin (sometimes not only due to deconjugating), a greater variety of stigmas undifferentiated dysplasia of connective tissue, more frequent detection of biliary sludge or gallstones. The clinical observation of a family case of Gilbert's syndrome where the mother is a homozygote, and the son - heterozygotes on UGT1A1 mutation is presented, which shows the above differences associated with genotype. Conclusion: Patients with asthenic constitution and the stigma dysplasia of connective tissue have to be examined by the presence of mutations rs8175347 gene UGT1A1. The carrier not only homozygous but with the heterozygous variant mutations may require changes in the interpretation of symptoms, lifestyle, medication, etc.