Cystic Fibrosis Flashcards
what is cystic fibrosis?
a genetic disease that causes an inherited defects in cell Chloride channels
what happens to the cell chloride channels in a patient with cystic fibrosis?
reduced ability to control flow of chloride ions
what does cystic fibrosis cause?
- production of excess, sticky mucous
- any secretions affected (mainly lung and pancreas)
what gene is affected in patients with cystic fibrosis?
the CFTR gene (cystic fibrosis transmembrane regulator gene) becomes mutated
what is the most common genetic mutation present in cystic fibrosis patients?
F508del mutation
what type of disease is cystic fibrosis?
a recessive disease (both parents need to have a copy of the mutated gene in order for it to present in children)
what tests can help diagnose cystic fibrosis?
- prenatal screening (amniocentesis)
- perinatal testing
- ‘sweat test’ where CF suspected
- CFTR gene testing
what perinatal screening occurs nowadays?
ALL children now screened at day 5 (blood spot test) which checks for 9 serious diseases.
why is the ‘sweat test’ used in suspected CF patients?
- measures salt content of sweat
- greater salt content in CF patients
what are the main symptoms of CF in children?
- troublesome cough
- repeated chest infections
- prolonged diarrhoea
- poor weight gain
what are the consequences of cystic fibrosis?
- liver dysfunction
- osteoporosis proneness
- diabetes symptoms
- reduced fertility
why does liver dysfunction occur in CF patients?
due to cirrhosis
why are CF patients prone to osteoporosis?
poor absorbance of nutrients such as vitamin D
why do CF patients have diabetes symptoms?
due to prolonged pancreas disease
what treatment is used for CF patients?
- physiotherapy
- medication
- exercise
- transplantation
