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Patient with Gilbert Syndrome A Case Report and Review of the Literature
Publication year - 2020
Language(s) - English
DOI - 10.33140/jgebr.02.02.02
Subject(s) - hemolysis , jaundice , gilbert's syndrome , reticulocyte , bilirubin , medicine , gastroenterology , endocrinology , physiology , biochemistry , chemistry , gene , rna
One of the Gilbert syndrome genetic diseases that is characterized by the presence of a genetic mutation in UGT1A1gene, which is responsible for uridine diphosphate glucuronosyl transferase enzyme, responsible for the binding ofbile, 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. Hemolysiswas excluded by the fact that the blood image did not include the presence of foreign cells, as well as reticulocytecount, and hemoglobin concentration in their normal rates, so it was excluded that the main cause of high bilirubinwas the occurrence of hemolysis. So he was diagnosed with Gilbert's syndrome.

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