Cystic Fibrosis Flashcards
What type of inheritance pattern is associated with Cystic Fibrosis?
Autosomal recessive
This means that a person must inherit two copies of the mutated gene, one from each parent, to have the disease.
At what stage do symptoms of Cystic Fibrosis typically begin?
Early childhood
Symptoms can worsen over time.
What are common respiratory symptoms of Cystic Fibrosis?
Persistent cough, recurrent lung infections, shortness of breath
These symptoms are due to thick mucus in the lungs.
What mutation is primarily responsible for Cystic Fibrosis?
CFTR mutation
CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator.
What digestive issues are associated with Cystic Fibrosis?
Malabsorption of food, difficulty gaining weight, greasy stools
This is due to the thick mucus affecting the pancreas.
What are some common complications of Cystic Fibrosis?
Bone issues, diabetes, delayed puberty
These complications arise due to the impact of the disease on the body.
What is a significant reproductive issue related to Cystic Fibrosis in males?
Blocked or absent vas deferens
This affects fertility.
What is the management approach for Cystic Fibrosis?
No cure, airway clearance, exercise, antibiotics for infections
Management focuses on improving quality of life and preventing complications.
What medication is used for mucus management in Cystic Fibrosis?
Dornase alfa, hypertonic saline
These help to thin mucus in the lungs.
How is Cystic Fibrosis diagnosed?
Newborn screening, sweat test, genetic testing
The sweat test measures chloride levels, which are typically high in CF patients.
What dietary recommendation is often given to individuals with Cystic Fibrosis?
High calorie diet
This is necessary due to malabsorption and increased energy needs.
True or False: Lung transplants are a common treatment for Cystic Fibrosis.
True
Lung transplants are considered in extreme cases.
What preventive measure is recommended for patients with Cystic Fibrosis?
Annual flu vaccination
This is important to reduce the risk of respiratory infections.
Fill in the blank: Cystic Fibrosis is primarily caused by a mutation in the _______.
CFTR gene
This gene is crucial for the regulation of salt and water transport in cells.
Life expectancy for people with CF?
44 years
