期刊
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
卷 11, 期 3, 页码 193-198出版社
SPRINGER
DOI: 10.1007/s11154-010-9149-x
关键词
Diabetes; Neonatal diabetes; Genetics; K-ATP channel; Monogenic
资金
- European Union [LSHM-CT-2006-518153]
The ATP-sensitive potassium (K-ATP) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of permanent neonatal diabetes cases. The majority of patients with a K-ATP mutation present with isolated diabetes however some have presented with the Developmental delay, Epilepsy and Neonatal Diabetes syndrome. This review focuses on mutations in the K-ATP channel which result in permanent neonatal diabetes, we review the clinical and functional effects as well as the implications for treatment.
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