Cystic fibrosis: current treatment and future direction

Shreya Gupta, N. Mittal, M. Gupta
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Abstract

Cystic fibrosis is an autosomal recessive genetic disorder, characterized by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to abnormality in the chloride channels of the mucus and sweat producing glands. Multiple organs systems are affected in this disorder, like respiratory system and gastrointestinal tract, severely impacting the patient’s quality of life, eventually leading on to several complications and death. Since the uncovering of the underlying genetic defect in cystic fibrosis (CF), our knowledge of the disease process has increased substantially, but we still lack a holistic approach to its management, which comprises of multiple facades, requiring both pharmacological and non-pharmacological or rehabilitatory approaches. So far, the therapeutic options were limited to targeting the consequences and complications of the disease, such as respiratory infection, mucus retention, pancreatic insufficiency, etc., but now several promising therapies may be able to address the underlying pathology rather than its long-term effects. This review summarizes the current and upcoming pharmacological options for CF, such as those targeting the CFTR gene defect directly, including gene editing, CFTR correctors and potentiators; drugs targeting the epithelial sodium channels (ENaC inhibitors); repositioning of some existing drugs and evaluating their role in CF; and understanding the disease better by transcriptomic approaches and the role of gut microbiota in the disease process and severity.
囊性纤维化:目前的治疗和未来的方向
囊性纤维化是一种常染色体隐性遗传病,其特征是囊性纤维化跨膜传导调节基因(CFTR)突变,导致粘液和汗腺氯离子通道异常。这种疾病会影响多个器官系统,如呼吸系统和胃肠道,严重影响患者的生活质量,最终导致多种并发症和死亡。自从发现囊性纤维化(CF)中潜在的遗传缺陷以来,我们对疾病过程的了解已经大大增加,但我们仍然缺乏一个整体的方法来管理它,它包括多个方面,需要药物和非药物或康复方法。到目前为止,治疗选择仅限于针对疾病的后果和并发症,如呼吸道感染,粘液潴留,胰腺功能不全等,但现在一些有希望的治疗方法可能能够解决潜在的病理,而不是其长期影响。本文综述了目前和未来CF的药物选择,如直接针对CFTR基因缺陷的药物,包括基因编辑、CFTR校正剂和增强剂;靶向上皮钠通道的药物(ENaC抑制剂);一些现有药物的重新定位和评估其在CF中的作用;通过转录组学方法更好地了解疾病以及肠道微生物群在疾病过程和严重程度中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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