{"title":"吉尔伯特综合征患者1例报告及文献复习","authors":"","doi":"10.33140/jgebr.02.02.02","DOIUrl":null,"url":null,"abstract":"One of the Gilbert syndrome genetic diseases that is characterized by the presence of a genetic mutation in UGT1A1\ngene, which is responsible for uridine diphosphate glucuronosyl transferase enzyme, responsible for the binding of\nbile, and thus the ease of its release from the liver and its non-accumulation in the body.\nA middle-aged man suffers from jaundice, although all clinical, laboratory, and imaging tests are normal. Hemolysis\nwas excluded by the fact that the blood image did not include the presence of foreign cells, as well as reticulocyte\ncount, and hemoglobin concentration in their normal rates, so it was excluded that the main cause of high bilirubin\nwas the occurrence of hemolysis. So he was diagnosed with Gilbert's syndrome.","PeriodicalId":235430,"journal":{"name":"Journal of Genetic Engineering and Biotechnology Research","volume":"43 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2020-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Patient with Gilbert Syndrome A Case Report and Review of the Literature\",\"authors\":\"\",\"doi\":\"10.33140/jgebr.02.02.02\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"One of the Gilbert syndrome genetic diseases that is characterized by the presence of a genetic mutation in UGT1A1\\ngene, which is responsible for uridine diphosphate glucuronosyl transferase enzyme, responsible for the binding of\\nbile, and thus the ease of its release from the liver and its non-accumulation in the body.\\nA middle-aged man suffers from jaundice, although all clinical, laboratory, and imaging tests are normal. Hemolysis\\nwas excluded by the fact that the blood image did not include the presence of foreign cells, as well as reticulocyte\\ncount, and hemoglobin concentration in their normal rates, so it was excluded that the main cause of high bilirubin\\nwas the occurrence of hemolysis. So he was diagnosed with Gilbert's syndrome.\",\"PeriodicalId\":235430,\"journal\":{\"name\":\"Journal of Genetic Engineering and Biotechnology Research\",\"volume\":\"43 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-04-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Genetic Engineering and Biotechnology Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.33140/jgebr.02.02.02\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Genetic Engineering and Biotechnology Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33140/jgebr.02.02.02","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Patient with Gilbert Syndrome A Case Report and Review of the Literature
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.