Adult Cystic Fibrosis Centre, Royal Brompton Hospital, London, UK; National Heart and Lung Institute, Imperial College London, UK.
Department of Women's and Children's Health, University of Liverpool, University of Liverpool, Alder Hey Children's Hospital, Liverpool, UK.
J Cyst Fibros. 2024 Jul;23(4):590-602. doi: 10.1016/j.jcf.2024.03.008. Epub 2024 Mar 19.
This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.
这是系列论文中的第三篇,为囊性纤维化跨膜电导调节因子(CFTR)相关疾病(CFTR-RD)患者提供更新的信息和建议。本文涵盖了各种疾病,包括已确立的疾病——先天性输精管缺如(CAVD)、弥漫性支气管扩张和慢性或急性复发性胰腺炎,以及其他可能被认为是 CFTR-RD 的疾病,包括变应性支气管肺曲霉病、慢性鼻-鼻窦炎、原发性硬化性胆管炎和水致皮肤皱纹。本文讨论了支持该疾病为 CFTR-RD 的 CFTR 功能和遗传证据,并提供了诊断的指导建议,包括需要考虑的其他疾病和管理建议。本文还强调了我们知识中的空白,特别是对新兴疾病的认识,以及未来的研究领域,包括 CFTR 调节剂的作用。