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Title: Analysis ofthe clinical picture of patients with genotypeTA UI in the courseof Gilbert’s syndrome

Sabina Więcek, Halina Woś, Urszula Grzybowska-Chlebowczyk, Maria Szymańska
Contemporary Pediatrics, Gastroenterology, Hepatology and Child Feeding
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Gilberfs syndrome, genotype TA UI, clinical picture

Introduction: Gilbert’s syndrome is one of the functional hyperbilirubinemias, which is usually manifested around puberty. This syndro­me is related to polymorphism of insertion A (TA) TAA in the promoter of gene coding enzyme UDP-glucuronosyltransferase 1. Aim of study: To evaluate the clinical picture of the patients with genotype TA UI in the course of Gilbert’s syndrome. Material and methods: The study involved 17 patients (9 boys and 8 girls) aged from 8 to 17 years (mean age 15 years) with diagnosed Gilbert’s syndrome. In all the patients the genotype TA UI in the promoter of gene for UDP-glucuronosyltransferase 1 was present. On the basis of the cli­nical picture, results of laboratory tests and imaging examinations we excluded organic diseases ofthe liver and bile ducts, viral infections, hematological and metabolic causes of hyperbilirubinemia. Results: Clinical picture of examined children was non-characteristic. The most often we observed periodical yellowish of the skin and sclera-in 11 (64%). In 6 (36%) patients increased bilirubin concentration was accidentally detected during the diagnostics of abdominal pain. The physical development of children was normal. Total bilirubin concentration was 31-83 umol/l (mean 42 umol/l), with the prevalence of unjugated bilirubin fraction. No patients had increased values of liver function and damage parameters. Abnormalities in ultrasonography of the abdominal cavity were observed only in 2 patients. In 2 patients the family history was positive for diseases of the liverand bile ducts. Conclusions: Examinations aimed at the presence of genotype TA UI in the promoter of gene for UDP-glucuronosyltransferase 1 may be very useful in establishing the final diagnosis of Gilbert’s syndrome because clinical picture is not characteristic. This examination can shorten the time of diagnostics and reduce of costs.