Cystic Fibrosis Flashcards
What is the pathology of cystic fibrosis?
chloride ion channel dysfunction = increase water and Na absorption –> thinning airway surface liquid –> decreased ciliary clearance = mucous hardens, expels in lungs/blocks ducts.
= bacteria is able to proliferate and resist phagocytes
What are the genes associated with CF?
CFTR1 (common) and CFTR2
What chromosome are the CF genes located on?
Chromosome 7
What is the inheritance pattern for CF?
autosomal recessive w/ genetic heterogeneity and variable expressivity
What is the most common cause of morbidity with CF?
pulmonary disease
What are the affects of CF on male reproductive system?
congenital absence/malformation of vas deferens (CAVD)
infertility-low semen volume, low sperm production
What are the affects of CF on female reproductive system?
↑ cervical mucus –> UTIs & difficult to get pregnant
What are the affects of CF on pancreas?
pancreatic duct obstruction from thickened secretions
diabetes/pancreatic failure
What are the affects of CF on respiratory system?
More susceptible to infection, chronic cough; coughing up blood
What are the affects of CF on GI system?
fat in stool = steatorrhea, malabsorption
What are the affects of CF on cardiac system?
BP increases due to blockage
HTN in pulmonary artery –> R side heart failure
How does CF affect newborns diagnosed with the disease?
meconium ileus = intestinal obstruction due to thick fetal waste products
What determines the clinical presentation and severity of disease for CF?
amount of functional CFTR
What causes airway obstruction in CF?
mucus production in lungs
What are the 3 diagnostic tools used to determine CF?
- PCR to find 2 mutations in CFTR gene
- 2 abnormal sweat tests
- 2 transepithelial nasal potential difference measurements
