Cystic fibrosis Flashcards
What type of inheritance pattern is cystic fibrosis?
Autosomal recessive
What gene on which chromosome is there a mutation on in cystic fibrosis?
f508 on chromosome 7
What does the f508 gene code for?
CFTR protein (cystic fibrosis transmembrane conductance regulator)
What are risk factors for cystic fibrosis?
Family history
Caucasians
What does CFTR gene normally allow in healthy individuals?
Normally actively secretes chloride ions and passively secretes sodium ions into ductal secretions which made the secretions thin and watery
What does the defective CFTR gene mean?
The secretions are thicker with higher sodium and chloride retention as not secreted out
What happens as a result of thicker secretions in cystic fibrosis?
Impaired muco-ciliary clearance and increased stagnation
What does increased stagnation of secretions in the lungs cause?
Difficulty breathing
Increased risk of infection
Increased risk of bronchiectasis
What is bronchiectasis?
Permanent dilation of bronchioles due to excessive mucous in them
90% of cystic fibrosis patients are diagnosed before the age of…
8
What are respiratory symptoms of CF?
Thick and sticky sputum cough
Recurrent upper respiratory tract infection (URTI)
Bronchiectasis
Difficulty breathing
What are symptoms in neonates with CF?
Meconium ileus (earliest stool is too thick to pass through the bowel causing bowel obstruction)
Failure to thrive
What are GIT symptoms of CF?
Thick secretions
Pancreatic insufficiency
Bowel obstruction
What is pancreatic insufficiency in CF patients?
The tubes transporting enzymes out of the pancreas become blocked with mucous so enzymes build inside the pancreas causing inflammation and difficulty digesting. Supplemental enzymes are often taken.
True or false: CF can cause infertility in males
True
There is atrophy of vas deferens and epididymis
