Patient with Gilbert Syndrome A Case Report and Review of the Literature

Abstract

Walaa Fikry Elbossaty

One of the Gilbert syndrome genetic diseases that is characterized by the presence of a genetic mutation in UGT1A1 gene, which is responsible for uridine diphosphate glucuronosyl transferase enzyme, responsible for the binding of bile, and thus the ease of its release from the liver and its non-accumulation in the body. A middle-aged man suffers from jaundice, although all clinical, laboratory, and imaging tests are normal. Hemolysis was excluded by the fact that the blood image did not include the presence of foreign cells, as well as reticulocyte count, and hemoglobin concentration in their normal rates, so it was excluded that the main cause of high bilirubin was the occurrence of hemolysis. So he was diagnosed with Gilbert's syndrome.

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