CR- Cystic fibrosis Flashcards
What is Cystic Fibrosis (CF)?
An inherited autosomal recessive disease resulting from a gene mutation on chromosome 7 affecting ion transport.
What gene is mutated in Cystic Fibrosis?
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
What are the chances of two CF carriers having an affected baby?
1-in-4 chance of having an affected baby and 1-in-2 chance that their baby will be a carrier.
What tests are available to diagnose Cystic Fibrosis?
- Genetic Testing
- Heel Prick Test
- Sweat Test
What does the Sweat Test measure?
Concentration of chloride in sweat, which is elevated in individuals with CF.
What are common respiratory symptoms of Cystic Fibrosis?
- Persistent cough
- Wheezing
- Shortness of breath
- Recurring lung infections
What is a significant gastrointestinal symptom of Cystic Fibrosis?
Large, smelly stools due to malabsorption.
What is Meconium Ileus?
A serious bowel obstruction in about 10% of babies born with CF, requiring surgery.
What is the role of the CFTR protein?
It controls the flow of water and chloride ions across cell membranes.
What complications can arise from the defect in CFTR?
- Respiratory disease
- Pancreatic insufficiency
- Biliary disease
- Infertility
- Cirrhosis of the liver
What is the prognosis for individuals with Cystic Fibrosis?
Currently, about half will live past the age of 40, with lung complications as the primary cause of death.
What are common treatments for Cystic Fibrosis?
- Bronchodilators
- Hypertonic saline
- Antibiotics
- Mucolytics
- Digestive enzymes (Creon)
- Physiotherapy
True or False: There is a cure for Cystic Fibrosis.
False
What is a common psychological symptom associated with Cystic Fibrosis?
Anxiety and depression due to the chronic nature of the disease.
Fill in the blank: The defect in CFTR leads to impaired transport of _______.
chloride ions
What is the effect of Cystic Fibrosis on pancreatic function?
Normal enzyme production but abnormal ion transport leads to pancreatic insufficiency.
What are common non-respiratory symptoms of Cystic Fibrosis?
- Diabetes
- Sinusitis
- Nasal polyps
- Arthritis
- Osteoporosis
What is a common complication of Cystic Fibrosis in males?
Infertility due to the absence of vas deferens.
What are the signs of jaundice in babies with Cystic Fibrosis?
Yellowing of the skin, eyes, and mucous membranes.
What kind of lung complications are common in Cystic Fibrosis patients?
Chronic lung infections and respiratory failure.
What can cause delayed puberty in individuals with Cystic Fibrosis?
Nutritional deficiencies and chronic illness.
What is a common musculoskeletal complication of Cystic Fibrosis?
Inspiratory muscle atrophy.
