Cystic Fibrosis Flashcards
Incidence?
1in 2500 this shows the gene is recessive
What is cystic fibrosis?
A deletion mutation damages the CFTR protein making it faulty this causes the buildup of mucus and dehydration of the resp tract restricting airways which are prone to infection
What does the CFTR protein normally do?
It is responsible for the secretion of Cl and reabsorption of Na which causes water to follow into the mucus making it less viscous and healthy. When faulty, Cl can’t be secreted so thick viscous mucus builds up in the resp system and other parts of the body
How is it diagnosed now?
Neonatal screening for immuno reactive trypsin and genetic testing or clinically if not picked up
What are the clinical features
Bronchiolar inflammation and infection in childhood, bronchectasis, respiratory failure, infertility, intestinal obstruction, malabsorption
Non pharmacological management includes…
Regular physiotherapy
What other management is done?
Antibiotics for infections, oxygen, NIV (non-invasive ventilation)
What is the ultimate treatment for cystic fibrosis under current laws?
Lung transplant
What genetic treatment is being trialed?
Somatic gene therapy replacing unhealthy gene with healthy gene via an inhaled viral vector. Germ line therapy is still sadly illeagal
What is the carrier rate?
1 in 25
