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囊性纤维化护理的未来:全球视角。

The future of cystic fibrosis care: a global perspective.

机构信息

Department of Thoracic Medicine, The Prince Charles Hospital, Brisbane, QLD, Australia; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

Charité - Universitätsmedizin Berlin, Berlin Institute of Health, Berlin, Germany; German Center for Lung Research, Berlin, Germany.

出版信息

Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6. Epub 2019 Sep 27.

Abstract

The past six decades have seen remarkable improvements in health outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young children. However, although life expectancy for people with cystic fibrosis has increased substantially, the disease continues to limit survival and quality of life, and results in a large burden of care for people with cystic fibrosis and their families. Furthermore, epidemiological studies in the past two decades have shown that cystic fibrosis occurs and is more frequent than was previously thought in populations of non-European descent, and the disease is now recognised in many regions of the world. The Lancet Respiratory Medicine Commission on the future of cystic fibrosis care was established at a time of great change in the clinical care of people with the disease, with a growing population of adult patients, widespread genetic testing supporting the diagnosis of cystic fibrosis, and the development of therapies targeting defects in the cystic fibrosis transmembrane conductance regulator (CFTR), which are likely to affect the natural trajectory of the disease. The aim of the Commission was to bring to the attention of patients, health-care professionals, researchers, funders, service providers, and policy makers the various challenges associated with the changing landscape of cystic fibrosis care and the opportunities available for progress, providing a blueprint for the future of cystic fibrosis care. The discovery of the CFTR gene in the late 1980s triggered a surge of basic research that enhanced understanding of the pathophysiology and the genotype-phenotype relationships of this clinically variable disease. Until recently, available treatments could only control symptoms and restrict the complications of cystic fibrosis, but advances in CFTR modulator therapies to address the basic defect of cystic fibrosis have been remarkable and the field is evolving rapidly. However, CFTR modulators approved for use to date are highly expensive, which has prompted questions about the affordability of new treatments and served to emphasise the considerable gap in health outcomes for patients with cystic fibrosis between high-income countries, and low-income and middle-income countries (LMICs). Advances in clinical care have been multifaceted and include earlier diagnosis through the implementation of newborn screening programmes, formalised airway clearance therapy, and reduced malnutrition through the use of effective pancreatic enzyme replacement and a high-energy, high-protein diet. Centre-based care has become the norm in high-income countries, allowing patients to benefit from the skills of expert members of multidisciplinary teams. Pharmacological interventions to address respiratory manifestations now include drugs that target airway mucus and airway surface liquid hydration, and antimicrobial therapies such as antibiotic eradication treatment in early-stage infections and protocols for maintenance therapy of chronic infections. Despite the recent breakthrough with CFTR modulators for cystic fibrosis, the development of novel mucolytic, anti-inflammatory, and anti-infective therapies is likely to remain important, especially for patients with more advanced stages of lung disease. As the median age of patients with cystic fibrosis increases, with a rapid increase in the population of adults living with the disease, complications of cystic fibrosis are becoming increasingly common. Steps need to be taken to ensure that enough highly qualified professionals are present in cystic fibrosis centres to meet the needs of ageing patients, and new technologies need to be adopted to support communication between patients and health-care providers. In considering the future of cystic fibrosis care, the Commission focused on five key areas, which are discussed in this report: the changing epidemiology of cystic fibrosis (section 1); future challenges of clinical care and its delivery (section 2); the building of cystic fibrosis care globally (section 3); novel therapeutics (section 4); and patient engagement (section 5). In panel 1, we summarise key messages of the Commission. The challenges faced by all stakeholders in building and developing cystic fibrosis care globally are substantial, but many opportunities exist for improved care and health outcomes for patients in countries with established cystic fibrosis care programmes, and in LMICs where integrated multidisciplinary care is not available and resources are lacking at present. A concerted effort is needed to ensure that all patients with cystic fibrosis have access to high-quality health care in the future.

摘要

过去六十年中,囊性纤维化患者的健康状况显著改善,这种疾病曾经是婴儿和幼儿的致命疾病。然而,尽管囊性纤维化患者的预期寿命大大延长,但该疾病仍然限制了生存和生活质量,并给囊性纤维化患者及其家庭带来了巨大的护理负担。此外,过去二十年的流行病学研究表明,在非欧洲血统的人群中,囊性纤维化的发生和频率比以前认为的要高,现在在世界许多地区都认识到了这种疾病。《柳叶刀呼吸医学》杂志关于囊性纤维化护理未来的委员会是在该疾病临床护理发生巨大变化的时期成立的,当时患者群体中成年患者不断增加,广泛的基因检测支持囊性纤维化的诊断,以及针对囊性纤维化跨膜电导调节因子(CFTR)缺陷的治疗方法的发展,这些都可能影响疾病的自然轨迹。该委员会的目的是提请患者、医疗保健专业人员、研究人员、资助者、服务提供者和政策制定者注意与囊性纤维化护理不断变化的格局相关的各种挑战,以及取得进展的机会,为囊性纤维化护理的未来提供蓝图。20 世纪 80 年代末 CFTR 基因的发现引发了基础研究的热潮,增强了对这种临床多变疾病的病理生理学和基因型表型关系的理解。直到最近,可用的治疗方法只能控制症状并限制囊性纤维化的并发症,但 CFTR 调节剂治疗方法在解决囊性纤维化的基本缺陷方面取得了显著进展,该领域正在迅速发展。然而,迄今为止批准用于治疗的 CFTR 调节剂价格非常昂贵,这引发了关于新疗法的可负担性的问题,并强调了高收入国家与低收入和中等收入国家(LMICs)之间囊性纤维化患者健康结果的巨大差距。临床护理的进步是多方面的,包括通过实施新生儿筛查计划更早地诊断疾病,通过规范化气道清除治疗和使用有效的胰酶替代和高能量、高蛋白饮食减少营养不良。以中心为基础的护理已成为高收入国家的常态,使患者能够受益于多学科团队的专家成员的技能。针对呼吸道表现的药物干预现在包括靶向气道粘液和气道表面液体水合作用的药物,以及针对早期感染的抗生素清除治疗和慢性感染维持治疗方案等抗菌治疗。尽管最近 CFTR 调节剂在囊性纤维化方面取得了突破,但开发新型粘液溶解剂、抗炎药和抗感染疗法可能仍然很重要,尤其是对于那些患有更晚期肺部疾病的患者。随着囊性纤维化患者的中位年龄增加,成年患者的数量迅速增加,囊性纤维化的并发症越来越常见。需要采取措施确保在囊性纤维化中心有足够数量的高素质专业人员来满足老年患者的需求,并采用新技术来支持患者和医疗保健提供者之间的沟通。在考虑囊性纤维化护理的未来时,委员会重点关注了五个关键领域,这在本报告中进行了讨论:囊性纤维化的不断变化的流行病学(第 1 节);未来临床护理及其提供的挑战(第 2 节);全球囊性纤维化护理的建设(第 3 节);新型治疗方法(第 4 节);以及患者参与(第 5 节)。在小组 1 中,我们总结了委员会的关键信息。在建立和发展全球囊性纤维化护理方面,所有利益相关者都面临着巨大的挑战,但为建立了囊性纤维化护理方案的国家以及在目前缺乏综合多学科护理和资源的低收入和中等收入国家改善患者护理和健康结果提供了许多机会。需要共同努力,确保所有囊性纤维化患者在未来都能获得高质量的医疗保健。

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