Cystic Fibrosis Flashcards
What is the genetic carry of cystic fibrosis?
Autosomal recessive
What does cystic fibrosis affect?
Mucous glands
What is cystic fibrosis caused by?
Genetic mutation of the cystic fibrosis transmembrane conductance regulatory (CTFR) gene by chromosome 7
What is the most common mutation?
Delta - F508
What does this protein do?
Codes for cellular channel, particularly chloride channels
What are the key consequences of this mutation?
Thick pancreatic and biliary excretions => lack of digestive enzymes
Low volume thick airway secretions => bacterial colonisation and susceptibility to airway infections
Congenital bilateral absence of vas deferens
What is used to screen for CF?
Newborn blood spot test
What is usually the first sign of cf?
Meconium ileus
- thick and sticky first stool that causes blockage
- presents as not passing meconium in first 24 hours, abdominal pain and vomiting
What are the symptoms of cf?
Chronic cough
Thick sputum production
Recurrent respiratory tract infections
Steatorroea
Abdo pain and bloating
Salty taste
Failure to thrive
What are the signs of cf?
Low weight and height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheeze on ausculatation
Abdo distension
How is cf diagnosed?
Newborn blood spot test
Sweat test = gold standard
Genetic testing for CFTR gene
How is genetic testing done?
Amniocentesis or chorionic villous sampling
What are key microbial colonisers in CF?
Staph aureus
Pseudonomas aerginosa
What can pseudomonas infection cause?
Increased morbidity and mortality
What is the management of CF?
Chest physiotherapy
Exercise
High calorie count
CREON tablets
Prophylactic flucloxacillin
Treat chest infections
Bronchodilators ie salbutamol
Nebulised DNase
Nebulised hypertonic saline
Vaccination
What vaccinations should be given?
Pneumococcal
Influenza
Varicella
What are other treatment options?
Lung transplant
Liver transplant
Fertility treatment
Genetic counselling
