Nhân một trường hợp đái đường do đột biến gen kir6.2 điều trị thành công với glibenclamide có thay thế cho insulin

• Tác giả: Thị Bích Ngọc Cấn, Thị Hoàn Nguyễn, Chí Dũng Vũ
• Ngôn ngữ: vie
• Ký hiệu phân loại: 616.2 Diseases of respiratory system
• Thông tin xuất bản: Y học Việt Nam, 2012
• Mô tả vật lý: 405-410
• Bộ sưu tập: Metadata
• ID: 637614

Tóm tắt

Neonatal diabetes mellitus is a rare disorder that is difine as insulin requiring hyperglycemia within the first months of life. Heterozygous activating mutations in the KCNJ11 and ABCC8 genes, which encode the KATP channel subunits Kir6.2 have recently been identified. Object: determine gen mutation in neonatal diabetes mellitus patients and ascess the result of transfer from insulin infections to Glibenclamide. Subject: the patients was diagnosed diabetes mellitus with Kir6.2 mutation within the 6 first months of life. Method: case study. Result: a 5.5 year - old girl was diagnosed diabetes mellitus when she was 45 days of age. Now she has been treating with insulin mixtard 70/30 subtaneous injection with dose of 14 units at morning and 10 units at evening. She was indentified Kir6.2 mutation by sequencing in United Kingdom. She was tranfered from insulin injection to Glibenclamide. After 2 week, transfer to Glibenclamide therapy has been successful. She has to treat only with oral Glibenclamide. The level of blood glucose is very good. Conclusion: Transfer to sulphonylurea therapy has been successful for patients with Kir6.2 mutation and results in improved glycaemic control.