Pediatria pre prax 3/2015

Gilbert‘s syndrome – a disease, risk factor, but also an evolutionary advantage?

Gilbert´s syndrome is the most common cause of unconjugated hyperbilirubinemia caused by mutation in the gene UGT1A1. This mutation leads to the reduction of activity of a key enzyme responsible for the conjugation of bilirubin. Hyperbilirubinemia is often the only clinical manifestation of the disease, so it is necessary to exclude the severe forms of hepatobiliary diseases of different etiologies within the diagnosis. Molecular genetic testing has an important place in the diagnostic process, that allows to prevent the invasive diagnostic procedures. While in history Gilbert´s syndrome was considered to be a disease associated with the risk of gallstones and spherocytosis, at present an increasing number of studies confirm the positive correlation with human health. This review offers the view into the patogenesis, diagnostic and prognostic significance of Gilbert´s syndrome.

Keywords: Gilbert´s syndrome, hyperbilirubinemia, UGT1A1.