Cystic Fibrosis Flashcards
Cystic Fibrosis
Autosomal recessive condition in which the lungs and digestive system become clogged with thick sticky mucus.
Persons affected
Mainly caucasions
What causes CP?
Mutation of CFTR (Cystic Fibrosis Transmembrane Regulator)
Physiology of mutation of CFTR
Cl- cannot get out of the cell, Na+ can get into the cell and water follows. Secretions outside the cell are very dehydrated and become very thick and sticky.
How does the CFTR mutation cause cystic fibrosis
Mutation in CFTR DNA => Mutation in CFTR Protein => Ion transport affected => Altered secretions => blocked duct & impaired mucosal defence => infection & inflammation => cystic fibrosis.
Classes of defect
Class I (worst), Class II (most common), Class III, Class IV, Class V
Symptoms in neonate
Failure to thrive, meconium ileus, rectal prolapse.
Symptoms in infants
Can develop rectal collapse
Symptoms in adults
Salty sweat , cough, haemoptysis, wheeze, recurrent infections, difficulty putting on weight, Respiratory failure.
Associated conditions
Upper lobe bronchiectasis, pneumothorax, cor pulmonale, diabetes, DIOS, gallstones, cirrhosis.
Additional symptom in men
Congenital bilateral absence of vas deferens.
Investigations
Sweat test, genetic testing
Genetic Testing
- Del508.
- New-born screening: Immunoreactive trypsingen (IRT)
Complications in Pancreas
Exocrine Failure => Digestive failure.
Endocrine Failure => Diabetes => hypoglycaemia.
Complications in Bowels
DIOS
