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Cystic Fibrosis in the 21st Century

Nicholas J Simmonds, MD(Res), MRCP, BMBS

Cystic fibrosis (CF) is the most common genetic, life-shortening disease in white populations [1]. It has a predilection for the lungs and gastrointestinal tract, and classically manifests as chronic suppurative lung disease and malabsorption, although significant variability in disease expression is well recognized. More than 70 years have passed since CF was identified as a separate disease entity when post mortem examinations of malnourished infants distinguished mucus plugging of pancreatic exocrine tissue from patients with celiac disease with normal pancreatic tissue [2]. At that time, life expectancy was very poor, with >70% of affected infants dying in their first year of life. Since then, major advances in our understanding of the disease have vastly improved the outcomes of individuals with CF. The median survival age is now approximately 38 years in most developed countries (Figure 1) [3], and infants born with CF in the 21st century are expected to live beyond 50 years of age [4]. An increasing number of middle-aged or older individuals with CF are also being recognized [5]. Identifying factors responsible for their longevity and improving our understanding of the mechanisms underpinning variable disease expression are important areas of ongoing research, as this survival advantage could potentially be extended to the general CF population.

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