Iafusco Fernanda, Maione Giovanna, Rosanio Francesco Maria, Mozzillo Enza, Franzese Adriana, Tinto Nadia
Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy.
CEINGE Advanced Biotechnology, 80131 Naples, Italy.
Diagnostics (Basel). 2021 Mar 22;11(3):572. doi: 10.3390/diagnostics11030572.
Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population and is caused by mutations in the CF transmembrane conductance regulator () gene that encodes for a chloride/bicarbonate channel expressed on the membrane of epithelial cells of the airways and of the intestine, as well as in cells with exocrine and endocrine functions. A common nonpulmonary complication of CF is cystic fibrosis-related diabetes (CFRD), a distinct form of diabetes due to insulin insufficiency or malfunction secondary to destruction/derangement of pancreatic betacells, as well as to other factors that affect their function. The prevalence of CFRD increases with age, and 40-50% of CF adults develop the disease. Several proposed hypotheses on how CFRD develops have emerged, including exocrine-driven fibrosis and destruction of the entire pancreas, as well as contrasting theories on the direct or indirect impact of mutation on islet function. Among contributors to the development of CFRD, in addition to genotype, there are other genetic factors related and not related to type 2 diabetes. This review presents an overview of the current understanding on genetic factors associated with glucose metabolism abnormalities in CF.
囊性纤维化（CF）是白种人群中最常见的常染色体隐性疾病，由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起，该基因编码一种氯离子/碳酸氢根离子通道，表达于气道和肠道上皮细胞膜以及具有外分泌和内分泌功能的细胞上。CF常见的非肺部并发症是囊性纤维化相关糖尿病（CFRD），这是一种由于胰腺β细胞破坏/紊乱继发胰岛素不足或功能异常以及其他影响其功能的因素导致的独特糖尿病形式。CFRD的患病率随年龄增长而增加，40%至50%的成年CF患者会患上这种疾病。关于CFRD如何发展出现了几种假说，包括外分泌驱动的纤维化和整个胰腺的破坏，以及关于CFTR突变对胰岛功能直接或间接影响的不同理论。在CFRD的发病因素中，除了CFTR基因型外，还有其他与2型糖尿病相关和不相关的遗传因素。本综述概述了目前对与CF中葡萄糖代谢异常相关的遗传因素的理解。
