Cystic fibrosis Flashcards
What is cystic fibrosis
Autosomal recessive condition causing thicker mucus
What casues cystic fibrosis
Genetic mutation of CF transmembrane conductance regulatory gene on chromosome 7
Most commonly delta-F508 mutation
Codes - cellular channels
What does the delta-F508 mutation effect
Chloride channnels in mucus menbranes
Key consequences of CF mutation
Thick pancreatic and biliary secretions
Low volume thick AW secretions
Congenital bilateral absence of vas deferens in males
What does thick pancreatic and biliary secretions in CF cause?
that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
What does oow volume thick AW secretions cause?
hat reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
What causes male infertility in CF?
- Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate,
How is CF screened for?
Newborn bloodspot test
What is often the first sign of CF?
Meconium ileus
What is meconium ileus?
thick and sticky meconium prevents meconium passing in first 24 hours
How does meconium ileus present?
No meconium passing in 24 hours
Abdominal distension and vomitting
How does meconium ileus present?
No meconium passing in 24 hours
Abdominal distension and vomitting
How does CF present later if undiagnosed at birth?
Recurrent lower respiratory tract infections
FTT
Pancreatitis
Symptoms of CF
Chronic cough
Thick sputum production
Recurrent repiratory tract infections
Steatorrhea
Abdo pain and bloating
Salty taste to skin
Poor weigth and height gain - FTT
Signs of CF
Low weight/height on growth vharts
Nasal polyps
Finger clubbing
Crackles and wheezing
Abdo distension
