Variants APOA5 p.G185C and p.S19W associated with early-onset severe hypertriglyceridemia-induced pancreatitis and diabetes complications in a Vietnamese girl
Tác giả: Nguyen Huu Hong Thu, Nong Thuy Linh, Ma Thi Huyen Thuong, Nguyen Thuy Duong, Nguyen Hai Ha
Số trang:
P. 415-424
Số phát hành:
Vol 21 - Number 3
Kiểu tài liệu:
Tạp chí trong nước
Nơi lưu trữ:
03 Quang Trung
Mã phân loại:
610
Ngôn ngữ:
Tiếng Anh
Từ khóa:
APOA5, APOE, hyperlipidemic, pancreatitis, hypertriglyceridemia, WES
Chủ đề:
Diabetes mellitus
&
Pancreatitis
Tóm tắt:
An imbalance of glucose and severely high triglyceride are the key characteristics driving hypertriglyceridemia and hyperlipidemic pancreatitis. Hereditary factors considerably promote the increase of triglyceride levels and secondary complications. This study explored the clinical characteristics and genetic causes of a young girl with recurrent severe hypertriglyceridemia-developed pancreatitis at 9-year-olds and diabetes mellitus appearance at 14-year-olds.