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Cystic fibrosis
M R Bye1, J M Ewig, L M Quittell
1Department of Pediatrics, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
Insights
Cystic Fibrosis (CF) care is shifting to adult physicians due to improved therapies and lifespan. This review covers CF epidemiology, genetics, diagnosis, and evolving treatments, including lung transplantation and future modalities.
Area of Science:
- Pulmonology
- Genetics
- Internal Medicine
Background:
- Cystic Fibrosis (CF) patient care is transitioning from pediatricians to adult physicians.
- Advances in CF therapy have significantly increased patient lifespan.
- Understanding CF pathophysiology is crucial for effective adult care.
Purpose of the Study:
- To provide a comprehensive review of Cystic Fibrosis.
- To discuss the epidemiology, genetics, and pathophysiology of CF.
- To cover diagnostic methods and current/future therapeutic strategies.
Main Methods:
- Literature review of Cystic Fibrosis epidemiology and genetics.
- Discussion of ion abnormalities and clinical manifestations.
- Overview of diagnostic techniques, including sweat tests and genetic analysis.
Main Results:
- CF is characterized by specific ion abnormalities leading to diverse clinical manifestations.
- Respiratory complications remain the most common lethal factors in CF.
- Newer therapies like lung transplantation are increasingly important.
Conclusions:
- CF management requires a multidisciplinary approach involving adult physicians.
- Ongoing research into genetics and pathophysiology drives therapeutic innovation.
- Future CF treatments hold promise for further improving patient outcomes.
Abstract:
While the care of cystic fibrosis (CF) patients has been mainly the province of pediatricians, great improvements in the therapy and life span of CF patients often results in their transition to care by adult physicians. In this review of CF, we begin with an overview of the epidemiology and genetics of the disease, with a discussion of the recently found ion abnormalities that lead to the clinical manifestations. This is followed by a discussion of the pathophysiology. Methods of diagnosis, ranging from the gold standard, the sweat test, to recent advances based on a greater understanding of the genetics of the disease are reviewed. This is followed by a discussion of therapy primarily geared to the treatment of the respiratory complications, as they are the most common lethal factors of the disease. We point out controversies where they exist. Newer forms of therapy such as lung transplantation are discussed, and we finish with a discussion about future therapeutic modalities, some of which are being approved as the paper is in print.