Cystic Fibrosis Flashcards
What is the inheritance of cystic fibrosis?
Autosomal recessive
What is the mutated protein in cystic fibrosis? What is the effect of this?
CFTR protein- it pumps chloride ions into secretions which helps to draw water into the secretions. Mutation of the protein causes thick sticky mutations.
When is diagnosis of CF usually done?
At newborn screening-
Tests for Immunoreactive trypsinogen which is released from pancreatic damage in CF and is tested for on a blood test- done with heel prick.
What are some of the respiratory symptoms of cystic fibrosis?
Failure to thrive Breathlessness Wheeze Recurrent chest infections Bronchiectasis Pneumonia Pneumothorax Respiratory failure Cor pulmonale
What are some of the GI symptoms of CF?
Blocks pancreatic secretions Malnourished Diarrhoea Diabetes Type I Steatorrhoea Gallstones Cirrhosis
What are some signs of CF?
Cyanosis
Finger clubbing
Bilateral coarse creps
How is CF diagnosed?
At birth- Heel Prick test for CF (Tests of immunoreactive trypsinogen)
Sweat test- abnormal high sodium and chloride (>60)
Genetic tests for common mutations
Faecal elastase can be done to investigate for pancreatic exocrine function
What is a meconium ileus?
Meconium is the first poo. A lack of secretions can cause an ileus to form as the meconium gets stuck. Features of bowel obstruction.
What is some of the treatment for CF?
Management is by a specialist CF team
Chest- Physiotherapy to clear secretions ABx if infection or prophylactic Mucolytics Bronchodilators Annual CXR Ventilation Transplantation
GI Nutrition supplements Provide pancreatic enzyme replacement therapy If DM- Insulin therapy Liver transplantation may be required
