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
What is the diagnostic test for CF?
Sweat chloride test
What is another name for a sweat chloride test?
pilocarpine iontophoresis method
CF patients have how many times the normal amount of sodium and chloride in their sweat?
four
What test is done if sweat chloride test is unclear?
genetic test
What happens when the CFTR gene gets mutated?
Sodium-chloride channel gets blocked affecting the regulation of sodium, chloride, and water across the cell membrane of epithelial cells. This causes the secretion of mucus that is low in sodium chloride to become thick and sticky blocking the ducts.
What is DIOS (distal intestinal obstruction syndrome)?
DIOS is intermittent obstruction of the terminal ileum at ileocecal junction caused by thickened dehydrated stool and mucus. It appears similar to small bowel obstruction.
What is meconium ileus?
small intestine of a newborn is blocked with thick, putty like mucous
How does CF affect pancreas?
Pancreatic duct is obstructed by thick secretions causing pancreatic fibrosis and blockage of pancreatic enzymes from reaching the duodenum
How does CF affect intestine?
It causes thickening of intestinal mucous leading to fecal impaction, partial or complete obstruction, malabsorption, rectal prolapse
How does CF affect reproduction?
It causes males sterility and female infertility.
How does CF affect the lungs?
Airway obstruction occurs due to thick mucous production which is too thick to relieve by cough leading to hypoxia
What is the goal of intervention for respiratory obstruction?
Relieve airway obstruction and control infection
How is pancreatic insufficiency managed?
Enzyme replacement of lipase, protease, amylase (Creon) before each meal and snack
