The effect of cystic fibrosis transmembrane conductance regulator modulators on impaired glucose tolerance and cystic fibrosis related diabetes.

囊性纤维化跨膜传导调节因子对糖耐量受损和囊性纤维化相关糖尿病的影响.

• 发表时间: Sep 2022
• 来源期刊: J Clin Transl Endocrinol
• DOI: 10.1016/j.jcte.2022.100301
• PMID: 35746945
• 文章类型: Journal Article
• 作者列表: Hasan S,Khan MS,Lansang MC

关键词: CFTR modulators; CFTR mutations; Cystic fibrosis; Cystic fibrosis related diabetes; Glucose tolerance; Insulin secretion

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder, with a prevalence of 1 in 2,500 live births. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. With the significant advancement in CFTR-directed therapies, life expectancy of CF patients has steadily increased. With improved survival, CF related co-morbidities have become more apparent. The most common endocrine complication includes Cystic fibrosis related diabetes (CFRD). Impaired glucose tolerance and insulin deficiency in CFRD leads to a decline in pulmonary function in CF patients. Here we review the underlying mechanisms involved in the pathogenesis of CFRD, focusing on the role of CFTR in the regulation of insulin secretion from the β-cell. We then discuss CFTR modulators and their effect on impaired glucose tolerance and CFRD.

摘要

囊性纤维化（CF）是一种常染色体隐性疾病，患病率为2500名活产儿中的1名。它是由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起的。随着CFTR定向疗法的重大进展，CF患者的预期寿命稳步增加。随着生存率的提高，CF相关的合并症已经变得更加明显。最常见的内分泌并发症包括囊性纤维化相关性糖尿病(CFRD)。CFRD中糖耐量受损和胰岛素缺乏导致CF患者肺功能下降。在这里，我们回顾了CFRD发病机理的潜在机制。关注CFTR在调节β细胞胰岛素分泌中的作用。然后我们讨论CFTR调节剂及其对糖耐量受损和CFRD的影响。