囊性纤维化治愈进展的最新情况以及对初级保健临床医生的影响。

Vito Terlizzi , Philip M. Farrell
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引用次数: 0

摘要

在过去的四分之一个世纪里,分子科学改变了囊性纤维化(CF)的诊断和治疗方法,而囊性纤维化跨膜传导调节器(CFTR)基因的发现则开启了一个新时代。从这一突破中获得的知识产生了巨大的临床影响。尽管囊性纤维化曾经是一个诊断难题,会导致长时间的延误、可预防的死亡和不可逆转的病理变化,但现在通过新生儿筛查项目,囊性纤维化可以在出生后不久得到常规诊断。这种症状前识别的策略消除了常见的诊断 "奥德赛",而这种诊断 "奥德赛 "是医疗保健服务系统的失败,给父母造成了心理创伤。多种治疗方法的进步使 CFTR 调节剂的治疗达到了顶峰,它可以减轻甚至纠正氯离子通道(CF 的基本病因)分子缺陷的影响。如本文所述,这一惊人的进步改变了 CF 的治疗方法。尽管取得了这一令人瞩目的进展,但在提供治疗方面仍存在挑战和争议。这些问题包括:如何以可接受的特异性最好地实现高灵敏度新生儿筛查;对于通过筛查测试不可避免的偶然发现(CFSPID/CRMS 病例和杂合子携带者)而确定的儿童,应采取何种适当的行动方案;如何最好地确保遗传咨询;何时开始使用非常昂贵但可挽救生命的 CFTR 调节剂药物;如何为无反应 CFTR 变异患者确定新的 CFTR 调节剂药物;如何调整其他治疗方式;以及如何与初级保健临床医生建立最佳合作伙伴关系。进步总会带来新的挑战,这一点在全世界的 CF 领域都很明显。因此,本文总结了近年来的主要进展和争议,并从国际视角阐述了其影响。
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Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians

During the past quarter century, the diagnosis and treatment of cystic fibrosis (CF) have been transformed by molecular sciences that initiated a new era with discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The knowledge gained from that breakthrough has had dramatic clinical impact. Although once a diagnostic dilemma with long delays, preventable deaths, and irreversible pathology, CF can now be routinely diagnosed shortly after birth through newborn screening programs. This strategy of pre-symptomatic identification has eliminated the common diagnostic “odyssey” that was a failure of the healthcare delivery system causing psychologically traumatic experiences for parents. Therapeutic advances of many kinds have culminated in CFTR modulator treatment that can reduce the effects of or even correct the molecular defect in the chloride channel —the basic cause of CF. This astonishing advance has transformed CF care as described fully herein. Despite this impressive progress, there are challenges and controversies in the delivery of care. Issues include how best to achieve high sensitivity newborn screening with acceptable specificity; what course of action is appropriate for children who are identified through the unavoidable incidental findings of screening tests (CFSPID/CRMS cases and heterozygote carriers); how best to ensure genetic counseling; when to initiate the very expensive but life-saving CFTR modulator drugs; how to identify new CFTR modulator drugs for patients with non-responsive CFTR variants; how to adjust other therapeutic modalities; and how to best partner with primary care clinicians. Progress always brings new challenges, and this has been evident worldwide for CF. Consequently, this article summarizes the major advances of recent years along with controversies and describes their implications with an international perspective.

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来源期刊
CiteScore
4.60
自引率
0.00%
发文量
61
审稿时长
5 days
期刊介绍: Recognized for its probing, comprehensive, and evidence-based reviews, Current Problems in Pediatric and Adolescent Health Care devotes each issue to a timely and practical topic in pediatric medicine, presented by leading authorities in the field. The journal offers readers easily accessible information that enhances professional experience and is pertinent to daily pediatric practice. Each issue''s review article is accompanied by an additional special feature designed to highlight a particular aspect of the topic presented.
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