Cystic Fibrosis Flashcards
1
Q
Structural abnormalities
A
Congenital absence of vas deferens –> males infertile
Mutation in gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR)- regulates hydration of sweat, digestive juices and mucus
Development of bronchiectasis
CF related diabetes- loss of islets of langerhans
2
Q
Physiological abnormalities
A
Autosomal recessive condition
cilliated airway epithelial cells have a mutated protein
airway dehydration and viscous mucous production
affects entire body
progressive
3
Q
Symptoms
A
Bowel obstruction die to meconium ileus in newborn coughing/ sputum production/ pyrexia shortness of breath chronic lung infection repeated chest exacerbations abnormal bowel motions
4
Q
signs
A
salty skin poor growth/ weight gain poor absorption nutriwnts haemoptysis (coughing up blood) clubbing cyanosis
5
Q
Abnormal test results
A
Genetic screening sweat test early childhood obstructive lung function septum cultures positive for staphylococcus, haemophilus and pseudomonas aeruginonas abnormal pancreatic function azoospermia hypoxia pulmonary hypertension
