Cardio Patholgies (cystic Fibrosis) Flashcards
What’s cystic fibrosis
An inherited recessive autosomal recessive disease
Result of gene mutation- single gene defect on chromosome 7
Responsible for encoding CF membrane conductance regulator, a transmembrane regulating protein defect leads to compromise in ion transport
Impairs transport of chloride ions, affects levels of sodium and water in the cell
Causes ducts to be obstructed with mucus
What does the CTFR protein do
Channel protein, controls flow of water and chloride ions between membranes, when structure changed passage is blocked
Difference between normal CTFR and mutant CTFR
Normal CTFR moves chloride ions out of cell
Mutant CTFR doesn’t move chloride ions causing sticky mucus on outside of cell
What happens when there’s a defect in CTFR 1/7
Respiratory disease- Concentrated fluid in lungs= viscous secretions due to dehydrated airways so mucus isn’t cleared
2/7
High sodium sweat- chloride ions aren’t absorbed so leads to prevention of sodium absorption
3/7
Pancreatic insufficiency- normal enzYme production, abnormal ion transport, dehydration of pancreatic secretions, stagnation can ocause diabetes
4/7
Biliary disease- Abnormal ion transport reduces water movement in lumen resulting concentrated bile damage in lumen walls
5/7
Infertility-Male cf are often infertile due to absence of vas defernes prevent transport of sperm from testes to urthera
6/7
Cirrhosis of liver due to abnormal ion transport
7/7
Gastrointestinal disease- intraluminal water deficiency causes problems with bowel movement
Diagnosis of cystic fibrosis
Heel prick test, genetic testing, carrier testing, sweat test
Symptoms of cf
Bowel obstruction when born, jaundic, persistent cough, coughing fits, inflammation, wheeze, sob, impaired diaphragm, large stools, malnourished, thin, stunted growth
Physio treatment of cf
Percussion, adjuncts,mobilisation
