Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

被引：66

作者：

Edghill, Emma L. ^{[1
]}

Flanagan, Sarah E. ^{[1
]}

Ellard, Sian ^{[1
]}

机构：

[1] Univ Exeter, Inst Biomed & Clin Sci, Peninsula Coll Med & Dent, Exeter EX2 5DW, Devon, England

来源：

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS | 2010年 / 11卷 / 03期

关键词：

Diabetes; Neonatal diabetes; Genetics; K-ATP channel; Monogenic; SULFONYLUREA RECEPTOR; KIR6.2; MUTATIONS; DEND SYNDROME; GENE; INSULIN; SUBUNIT; MELLITUS; PATIENT; SUR1;

D O I：

10.1007/s11154-010-9149-x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：193 / 198

页数：6

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