Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis

• Published in: Endocrine Journal Vol. 69; no. 9; pp. 1101 - 1108
• Main Authors: Fujita, Shingo, Nishizawa, Hitoshi, Miyashita, Yohei, Imada, Tasuku, Yamaguchi, Takashi, Murano, Takeyoshi, Bujo, Hideaki, Asano, Yoshihiro, Kozawa, Junji, Maeda, Norikazu, Shimomura, Iichiro
• Format: Journal Article
• Language: English
• Published: Kyoto The Japan Endocrine Society 01.01.2022; Japan Science and Technology Agency
• Subjects: Acute pancreatitis; Apolipoprotein A5; Apolipoprotein E; Apolipoproteins; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Dyslipidemia; Environmental factors; Genes; Genetic factors; Hypertriglyceridemia; Pancreatitis; Patients

Hypertriglyceridemia is caused not only by environmental factors but also by genetic factors. Severe hypertriglyceridemia is prone to complications of acute pancreatitis. Here, we report a whole-exome sequencing (WES) analysis for a young hypertriglyceridemic patient with recurrent acute pancreatiti...