The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery

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.

Predictors of Mortality in Children With Cystic Fibrosis

“…A study done by Courteny et al indicated an average case fatality rate of 24.6 in adults (11). Lower BMI and lower PFT results are in general associated with higher mortality reported from various studies from different parts of the world (12)(13)(14), as seen in our study.…”

Evolution of Antibiotic Tolerance Shapes Resistance Development in Chronic Pseudomonas aeruginosa Infections

“…Cystic fibrosis (CF) is the most common life-limiting, autosomal, recessively inherited disease in Caucasian populations, with the primary cause of death being respiratory failure resulting from chronic pulmonary infection (22). CF patients have reduced lung clearance capacity, leading to the development of lifelong chronic infections caused by opportunistic bacterial pathogens, such as Pseudomonas aeruginosa.…”

Managing Cystic Fibrosis in Polish Healthcare

“…According to the analysis by Keogh et al [ 32 ], it is expected that more than half of children with CF born today will live to at least the fifth decade of life. Access to modern treatment, such as CFTR modulator therapies, contributed to the extension and improvement of patients’ life quality [ 14 ].…”

“…This is the result of the development within many areas of CF care. Many factors are responsible for these major advances in treatment such as standardisation with high-quality healthcare of patients in specialised centres by multidisciplinary teams, better control of pulmonary infection with the development of new inhaled therapies, better control of Pseudomonas aeruginosa colonisation, availability of modern treatment including the cystic fibrosis transmembrane conductance regulator (CFTR) modulators, aggressive nutritional supplementation with pancreatic enzymes, early diagnosis through newborn screening, and lung transplantation [ 14 , 15 , 16 ]. In spite of this development, CF remains a progressive lethal disease.…”