UGT1A1 gene mutation and hyperthyroidism combined with hepatic failure: case report and literature review
Konferenz: BIBE 2019 - The Third International Conference on Biological Information and Biomedical Engineering
20.06.2019 - 22.06.2019 in Hangzhou, China
Tagungsband: BIBE 2019
Seiten: 4Sprache: EnglischTyp: PDFPersönliche VDE-Mitglieder erhalten auf diesen Artikel 10% Rabatt
Yan, Qianyu; Fu, Jingyun (Department of Endocrinology and Metabolism, First Affiliated Hospital of Kunming Medical University, Kunming, China)
A 20-year-old man was referred to our center with hyperthyroidism and hyperbilirubinemia. Hyperthyroidism combined by hepatic failure had been diagnosed on the basis of the Clinical and laboratory findings. Because of the presence of associated UGT1A1 gene polymorphism: c.211G>A, p. (Gly71Arg) missense mutation, a diagnosis of Crigler–Najjar syndrome type II was established.