UGT1A1 gene mutation and hyperthyroidism combined with hepatic failure: case report and literature review
Conference: BIBE 2019 - The Third International Conference on Biological Information and Biomedical Engineering
06/20/2019 - 06/22/2019 at Hangzhou, China
Proceedings: BIBE 2019
Pages: 4Language: englishTyp: PDFPersonal VDE Members are entitled to a 10% discount on this title
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.