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.