新生儿糖尿病：不断增加的基因列表有助于改善诊断和治疗。
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
机构信息
Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes Center, The University of Chicago, Chicago, IL 60637, USA.
出版信息
Curr Diab Rep. 2011 Dec;11(6):519-32. doi: 10.1007/s11892-011-0234-7.
Abstract
There has been major progress in recent years uncovering the genetic causes of diabetes presenting in the first year of life. Twenty genes have been identified to date. The most common causes accounting for the majority of cases are mutations in the genes encoding the two subunits of the ATP-sensitive potassium channel (K(ATP)), KCNJ11 and ABCC8, and the insulin gene (INS), as well as abnormalities in chromosome 6q24. Patients with activating mutations in KCNJ11 and ABCC8 can be treated with oral sulfonylureas in lieu of insulin injections. This compelling example of personalized genetic medicine leading to improved glucose regulation and quality of life may-with continued research-be repeated for other forms of neonatal diabetes in the future.
摘要
近年来，在揭示婴儿期起病的糖尿病的遗传病因方面取得了重大进展。迄今已发现 20 个致病基因。最常见的病因是编码三磷酸腺苷敏感性钾通道（KATP）两个亚单位的基因突变（KCNJ11 和 ABCC8）和胰岛素基因（INS），以及 6q24 染色体异常。携带 KCNJ11 和 ABCC8 基因突变的患者可使用口服磺脲类药物治疗，而无需胰岛素注射。这种个性化遗传医学的典范可改善葡萄糖调节和生活质量，如果继续研究，未来可能会应用于其他新生儿糖尿病。
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