Online ISSN 2313-1519
Print    ISSN 1812-2892
Abstract - Gilbert syndrome: case report and review of available diagnostic approaches
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Kakharman Yesmembetov, Dmitriy Kogay, Gulmira Mukhamadieva, Nurgul Yesmembetova, Alexey Tsoy

A 16-year old male was admitted with complaints on sore throat, unilateral knee joint pain and general weakness. Pre-operation lab check revealed normal values of all liver tests except of hyperbilirubinemia due to elevated unconjugated bilirubin. Due to persistently normal liver tests, except of unconjugated hyperbilirubinemia, and repetitive episodes of jaundice in a young male with no signs of alcoholic, metabolic and viral liver disease, diagnosis of Gilbert syndrome was made, which was later confirmed by UGT1A1 gene mutations test. Gilbert syndrome is the most prevalent inherited disorder of bilirubin metabolism, affecting 10% of the population. Nonhemolytic unconjugated hyperbilirubinemia, without any effect on prognosis and life expectancy of the patient is the distinctive feature of Gilbert syndrome. Gilbert syndrome is usually diagnosed by exclusion of other more prevalent liver diseases, in difficult diagnostic situations use of UGT1A1 gene mutation is advised.

Volume 1, Number 31 (2014)