Cystic Fibrosis Flashcards
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Cystic fibrosis (CF) is an _________ _________ disorder.
autosomal recessive
Cystic fibrosis is characterized by altered transport of which ions in and out of epithelial cells?
sodium and chloride
What gene, located on chromosome 7, that regulates sodium-choride channels gets mutated in CF?
Cystic Fibrosis Transmembrane Regulator (CFTR)
What gene regulates sodium-chloride channels in epithelial surfaces of airways, pancreatic ducts, and sweat glands ducts in our body?
Cystic Fibrosis Transmembrane Regulator (CFTR) gene located on chromosome 7
If both parents carry the affected gene, how much chance for each offspring to have the disease?
25%
All 50 states have passed legislation that require who needs to be screened for CF?
newborns
When is testing for CF usually done in children?
If CF is suspected or if parents are possible carriers
In pregnant women who are known carriers, what prenatal testing can be done?
amniocentesis or chorionic villus sampling
Are carriers of CF affected by the gene mutation?
No
What is the median age at the diagnosis of CF?
5 months
What are the initial findings of CF in a newborn?
meconium ileus
What are the clinical manifestations of CF in adults?
frequent cough that becomes persistent and produces viscous purulent sputum
What are the signs of exacerbations of CF in adults?
increased cough and sputum, weight loss, bronchiectasis worsens, recovery of lung function less complete and all lead to respiratory failure.
What are the complications of CF?
CFRD, bone disease (osteopenia, osteoporosis, leads to bone fracture), sinus disease, liver disease, pneumothorax, massive hemoptysis, diabetes
What are the clinical manifestations of CF in children?
meconium ileus (in newborn), wheezing, coughing, frequent pneumonia, failure to thrive or malnutrition, steatorrhea
