W3 - Cystic Fibrosis Flashcards
What is cystic fibrosis?
An inherited autosomal recessive disease caused by a mutation in the cystic fibrosis transmembrane regulating protein
The defects leads to a disruption in iron transport including chloride ions, sodium ions, and water
What chromosome is mutated in cystic fibrosis patient?
Chromosome seven
How does the single gene mutation of cystic fibrosis affect other organs of the body
Causes ducks to become obstructed with mucus resulting in them becoming inflamed and replacing damage cells with connective tissue which then results in scarring
Why is cystic fibrosis hard to treat?
There are over 1500 mutations of the CFT gene
How can cystic fibrosis alter the respiratory system?
Due to an abnormal concentration of fluid in the lungs this leads to viscous secretions in the airway due to dehydrated airway mucus is not cleared which causes the patient to develop an infection
How does cystic fibrosis cause high sodium sweat?
Chloride ions are not absorbed leading to prevention of sodium absorption
CF patients will have low salt levels due to it being lost through sweat, which then affects their ability to recognise thirst resulting in them being dehydrated
How does cystic fibrosis called cause pancreatic insufficiency?
Production of enzymes remain normal but the abnormal iron transport leads to dehydration of the pancreatic secretions therefore leading to stagnation in pancreatic duct which can cause diabetes further down the line
How can cystic fibrosis cause biliary disease?
Abnormal iron transport reduces water movement in the lumen, resulting in concentrated bile which can damage the walls of the lumen and leads to liver damage
How does cystic vibrators cause infertility?
Males with cystic fibrosis are often infertile due to the absence of vas deferens which prevents the transport of sperm from the testes to the urethra
How does cystic fibrosis cause cirrhosis of the liver
Due to the abnormality of iron transport
How does cystic fibrosis cause gastrointestinal disease?
Intraluminal water deficiency causes problems with bowel movement (constipation)
What are the three ways to diagnose cystic fibrosis?
Genetic testing
Heal prick test
Sweat test
What are some symptoms of cystic fibrosis that are present at birth?
- serious bowel obstruction (meconium ileus)
- Signs of jaundice
What are the common lung symptoms for cystic fibrosis?
Persistent cough and coughing fits
Inflammation in the lungs (wheezing & SOB)
Recurring chest and lung infections
Cross infection
Impaired diaphragm from enlarged liver
What are the common digestive symptoms of cystic fibrosis?
Small smelly stool
Malnutrition /poor weight gain/stunted growth
