Université de Paris, Institut Cochin, Inserm, Paris, France; Respiratory Medicine and Cystic Fibrosis National Reference Center, Cochin Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; ERN-Lung CF Network, Frankfurt, Germany.
Respiratory Medicine and Cystic Fibrosis National Reference Center, Cochin Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
Chest. 2023 Jan;163(1):89-99. doi: 10.1016/j.chest.2022.07.004. Epub 2022 Jul 16.
Cystic fibrosis (CF) is a genetic disease in which mutations in the gene encoding for the CF transmembrane conductance regulator protein result in a multisystem disease dominated by digestive and respiratory manifestations. In the mid-20th century, CF caused death within the first years of life. Over the past decades, advances in disease management, which includes systematic neonatal screening, multidisciplinary symptomatic CF care, lung transplantation and, more recently, highly effective CF transmembrane conductance regulator modulators, have transformed the prognosis of people with CF markedly. In most countries with well-established CF care, adults now outnumber children, and life expectancy is expected to increase further, narrowing the survival gap with the general population. However, marked differences in the prognosis of CF exist not only among high-, low-, and middle-income countries but also among high-income countries, based on the presence and quality of a specialized CF care provision network. Current evidence suggests that differences in patient clinical status and survival could be attributable not only to intrinsic disease severity but also to disparities in access to high-quality specialized care. Because CF is generally a progressive disease, adults with CF often show increased pulmonary severity and complications and increased occurrence of comorbidities, which highlights the need for specialized adult CF centers. This article seeks to describe the evolution of CF demography over the past decades, predict future trends, and anticipate the future provision of adult CF care.
囊性纤维化（CF）是一种遗传性疾病，其基因突变导致 CF 跨膜电导调节蛋白的编码发生改变，从而导致多系统疾病，主要表现为消化系统和呼吸系统的症状。在 20 世纪中叶，CF 导致患者在生命的最初几年内死亡。在过去的几十年中，疾病管理的进步，包括系统的新生儿筛查、多学科的 CF 症状护理、肺移植以及最近的高效 CF 跨膜电导调节剂调节剂，显著改变了 CF 患者的预后。在大多数有完善 CF 护理的国家，成年人的数量超过了儿童，预期寿命将进一步延长，缩小了与普通人群的生存差距。然而，CF 的预后存在显著差异，不仅存在于高、中、低收入国家之间，而且存在于高收入国家之间，这取决于专业化 CF 护理提供网络的存在和质量。目前的证据表明，患者临床状况和生存的差异不仅归因于疾病的内在严重程度，还归因于获得高质量专业化护理的差异。由于 CF 通常是一种进行性疾病，因此 CF 成年患者通常表现出肺部严重程度和并发症增加，以及合并症发生率增加，这突出了需要专业化的成人 CF 中心。本文旨在描述过去几十年 CF 人口统计学的演变，预测未来趋势，并预测未来成人 CF 护理的提供情况。
