Cystic fibrosis: a clinical view
Carlo Castellani1, Baroukh M Assael2
1Verona Cystic Fibrosis Centre, Piazzale Stefani 1, 37126, Verona, Italy. carlo.castellani@ospedaleuniverona.it.
Cellular and Molecular Life Sciences : CMLS
|October 7, 2016
Summary
Cystic fibrosis (CF) is a genetic disorder affecting multiple organs due to CFTR gene mutations. Advances in early diagnosis and treatment have significantly increased patient survival rates.
Area of Science:
- Genetics and Molecular Biology
- Pulmonology
- Endocrinology
Background:
- Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CFTR gene, leading to multi-organ dysfunction.
- Impaired CFTR function results in fat malabsorption and chronic pulmonary infections, causing progressive lung damage.
Purpose of the Study:
- To provide a comprehensive overview of cystic fibrosis, including its genetic basis, clinical manifestations, and current therapeutic strategies.
- To highlight the progress in CF management, improved survival rates, and ongoing research into novel treatments.
Main Methods:
- Review of existing literature on cystic fibrosis genetics, pathophysiology, clinical presentation, and treatment modalities.
- Analysis of factors contributing to CF clinical variability and outcomes.
Main Results:
- CFTR gene mutations are the primary cause, but modifier genes also influence disease expression.
- Median survival for CF patients has increased to 50 years due to early diagnosis and aggressive treatment.
- Current treatments include enzyme replacement, physiotherapy, and antibiotics, with transplantation for severe cases.
Conclusions:
- Despite improved survival, several aspects of CF require further investigation, including female outcomes, malignancy risks, and comorbidity management.
- New drugs targeting CFTR function are emerging, with some showing promising clinical impact and others in early-stage trials.
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