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Cystic fibrosis: review of the decade
1Department of Respiratory Paediatrics, Level 4, Chelsea Wing, Royal Brompton and Harefield NHS Trust, Sydney Street, London SW3 6NP, England. ajaffe@doctors.org.uk
Insights
Life expectancy for children with cystic fibrosis (CF) has doubled, reaching 40 years for those born in 1990. Early diagnosis and advanced treatments offer hope for improved outcomes in CF patients.
Area of Science:
- Medical Genetics
- Pulmonology
- Biochemistry
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs, primarily the lungs.
- Over 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
- CF impacts ion transport, mucus properties, inflammation, and bacterial adherence.
Purpose of the Study:
- To review current understanding and advancements in cystic fibrosis treatment and patient outcomes.
- To highlight the significance of early diagnosis and specialized care centers.
- To discuss emerging therapies and their potential impact on life expectancy.
Main Methods:
- Literature review of CF research and clinical practice.
- Analysis of trends in CF patient survival and demographics.
- Evaluation of therapeutic interventions and diagnostic strategies.
Main Results:
- Median life expectancy for children born in 1990 with CF is 40 years, a significant increase.
- Nearly half of all individuals with CF are now adults.
- Recombinant human DNase and anti-inflammatory agents show therapeutic benefits.
Conclusions:
- Early diagnosis, potentially through neonatal screening, is crucial for effective CF management.
- Multidisciplinary care at specialized CF centers improves survival rates.
- Emerging therapies like gene therapy and lung transplantation offer future hope, alongside established treatments such as physiotherapy and nutrition.
Abstract:
The median estimated life expectancy of children with cystic fibrosis (CF) born in 1990 is 40 years which represents a doubling in the last 20 years, and nearly half of all patients are now adults. Since the identification of the gene, more than 1000 gene mutations have been discovered. This gene encodes for the cystic fibrosis transmembrane conductance regulator (CFTR), a protein that is thought to have a role in ion transport, mucus rheology, inflammation and bacterial adherence. Various therapeutic mechanisms are currently being investigated in an attempt to overcome these abnormalities. Recombinant human DNase is beneficial in many patients and the use of anti-inflammatory agents such as steroids, ibuprofen and macrolides have potential. Despite these advances in treatment it is essential that these patients are diagnosed early. Whilst the case for neonatal screening is not absolutely conclusive the evidence is highly suggestive that it would be beneficial. It may be that, in the future, new treatments such as gene therapy will be more effective in those patients who have not yet developed lung disease. Whilst gene therapy and other new treatments such as bilateral living lobar lung donation give our patients optimism for the future it is important to remember that the increase in survival is a result of good physiotherapy, nutrition, aggressive antibiotic use and an increase in our understanding of the disease. It is important that patients continue to be referred early to tertiary CF centres.