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Flashcards in Cystic Fibrosis Deck (10)
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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