what is cystic fibrosis?
Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus.
explain cystic fibrosis in a molecular level
misfolded> can't migrate from the ER to the Cell membrane> Lack of CFTR protein
Explain in order the organs affected in cystic fibrosis?
Early childhood>> pancreas
what is another name for cystic fibrosis?
"fibrocystic disease of the pancrea"
explain in detail what happens to the newborns in cystic fibrosis?
explain in detail what happens to the pancreas in cystic fibrosis?
backed up pancreatic enzymes can digest the pancreatic duct.
explain in detail what happens to the lungs in cystic fibrosis?
what test do we perform to confirm the diagnosis of cystic fibrosis and why?
Sweat test> abnormally salty sweet
the anscence of the CFTR on the apical membrane of the epithelial cells lining the duct of sweat glands, results in poor re-absorption of the chloride ions. Cl-
therefore, the sweat is rich in Cl- & Na+ ions
what other issues in the body may be caused by cystic fibrosis? (3)
why r men w/ cystic fibrosis infertile?
due to abscence of the VAS DEFERNS
Vas Deferens: the duct which conveys sperm from the testicle to the urethra.
what lung problems can occur from cystic fibrosis?
due to cystic fibrosis, what can the chronic bacterial infection and inflammation lead to?
occasionally, if the inflammation erodes into a BV > hemoptysis (coughing up blood)
Diagnosis of CF?
difference in CFTR roles in sweat glands vs lungs and pancreas?
unlike in lungs an pancreas where chloride can get out (into the mucous) , when CFTR is not working in the sweat glands, Cl- can't come in! or be re-absorbed >> making sweat tastes salt.
Treatment of CF?
chest physiotherapy: pats on chest to loosen up mucous
Personalized treatments of CF?
what kind of disorder is CF? (genetic level) epidemiology?
Identify 4 common cystic fibrosis complications and describe how they are treated
- Respiratory Infections – aggressive therapy with physio and prophylactic antibiotics
- Low body weight – pancreatic enzyme replacement therapy, high calorie intake and extra supplements
- Distal Intestinal Obstruction Syndrome (DIOS)
- CF Related Diabetes
Describe the management of cystic fibrosis
- Avoid smoking
- Avoid other CF patients
- Avoid jacuzzis (pseudomonas)
- Annual influenza immunisation
- Sodium chloride tablets in hot weather / vigorous exercise