WEEK 3 Cystic Fibrosis Flashcards
(24 cards)
What is Cystic Fibrosis (CF)?
An inherited autosomal recessive disease caused by a gene mutation on chromosome 7
What does the CFTR protein do?
Controls the flow of water and chloride ions between membranes
What is the most common pathology of cystic fibrosis?
A change in the structure of the CFTR protein, blocking the passage of molecules and ions
What is the heel prick test used for?
Screening for cystic fibrosis in newborns
What does a sweat test measure?
Concentration of chloride in sweat
How many mutations of the CFTR gene exist?
Over 1500 mutations
What is the prevalence of CF among Caucasians?
1 in every 25 Caucasians carries the gene
What chance do two carriers have of having an affected baby?
1 in 4 chance
What are common symptoms of CF in the lungs?
- Persistent cough
- Wheezing
- Shortness of breath
- Recurring lung infections
What digestive issues can CF cause?
- Large smelly stools
- Malnutrition
- Poor weight gain
- Stunted growth
What is Meconium Ileus?
Serious bowel obstruction in newborns with CF due to thick meconium
What are some treatment options for CF?
- Bronchodilators
- Antibiotics
- Mucolytics
- Digestive enzymes
- Physiotherapy
What is the typical prognosis for individuals with CF?
About half will live past the age of 40
True or False: CF is the commonest lethal inherited disease in Caucasians.
True
What complications can arise from pancreatic insufficiency in CF?
Can lead to diabetes in later life
What is a consequence of high sodium sweat in CF?
Chloride ions are not absorbed, preventing sodium absorption
What is the impact of CF on male fertility?
Often leads to infertility due to absence of vas deferens
What is biliary disease in CF?
Concentrated bile damages walls of the bile duct due to abnormal ion transport
What are some other symptoms associated with CF?
- Diabetes
- Sinusitis
- Infertility
- Arthritis
- Liver failure
Fill in the blank: The defect in CFTR results in __________ disease.
Respiratory
How many lives does CF claim each week?
2 lives
What is the role of physiotherapy in managing CF?
- Percussion
- Mobilisation/exercise
- Suction
What does the term ‘cross infection’ refer to in CF?
Infections spreading between CF patients
What is the result of a lack of Na+, Cl-, or water diffusion in CF?
Can lead to various complications including respiratory and gastrointestinal diseases
