Abstract
Significant advances in the management of cystic fibrosis (CF) in recent decades have dramatically changed the epidemiology and prognosis of this serious disease, which is no longer an exclusively pediatric disease. This paper aims to review the changes in the incidence and survival of CF and to assess the impact of the discovery of the responsible gene (the CFTR gene) on these changes. The incidence of CF appears to be decreasing in most countries and patient survival, which can be monitored by various indicators, has improved substantially, with an estimated median age of survival of approximately50 years today. Cloning of the CFTR gene 30 years ago and efforts to identify its many mutations have greatly improved the management of CF. Implementation of genetic screening policies has enabled earlier diagnosis (via newborn screening), in addition to prevention within families or in the general population in some areas (via prenatal diagnosis, family testing or population carrier screening). In the past decade, in-depth knowledge of the molecular bases of CF has also enabled the emergence of CFTR modulator therapies which have led to major clinical advances in the treatment of CF. All of these phenomena have contributed to changing the face of CF. The advent of targeted therapies has paved the way for precision medicine and is expected to further improve survival in the coming years.
Highlights
Cystic fibrosis (CF) has traditionally been defined as the most common life-threatening inherited disorder of children in Caucasian populations, with an incidence of 1/2500 live births [1]
Epidemiological changes have occurred both in the incidence of CF, which seems to be decreasing in most countries, and in the survival of CF patients, which has greatly improved in recent decades [4,5,6,7,8]
The proportion of adult patients exceeds that of children in developed countries and the estimated median age of survival is close to 50 years [10,11,12], which means that half of the babies born today with CF may expect to survive into their fifth decade
Summary
Cystic fibrosis (CF) has traditionally been defined as the most common life-threatening inherited disorder of children in Caucasian populations, with an incidence of 1/2500 live births [1]. From an exclusively pediatric disease, CF has gradually become a disease of the adult, with new associated pathologies to be managed Such epidemiological changes can be tracked by reliable tools such as CF patient registries, which monitor the demographical and clinical characteristics of the CF population. The discovery of the gene responsible for CF—the CFTR gene—30 years ago [13,14,15] marked an important milestone in the history of CF It has upset our knowledge of the pathophysiology of the disease, contributed to improving the diagnosis and treatment of CF patients and paved the way for novel therapeutic approaches and the advent of targeted therapies [16]. This paper reviews the changes that have occurred in the epidemiology of CF, focusing on incidence and survival, and reports the impact of the discovery of the CFTR gene on these changes
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