Cystic Fibrosis Flashcards
Define Cystic Fibrosis
An inherited autosomal recessive disease. A single gene defect on chromosome 7, which encodes a transmembrane protein involved in ion transport - CTFR.
Describe the pathology of Cystic Fibrosis
Defect leads to a compromise in ion transport - impairs the transport of chloride ions and also affects levels of sodium and water in the cell.
Affects several organs causing ducts to become obstructed with mucous.
What does the defect in CTFR do to the respiratory system?
Mucous become thick and difficult to clear leading to reoccurring infections leading to scarring
Describe the affect of the defect in CTFR on other areas of the body (4)
Pancreatic insufficiency - abnormal ion transport leads to dehydration of secretions, which may damage duct
Biliary disease - more concentrated bile may damage walls
Cirrhosis of the liver
GI disease - changes to intra-luminal water content can cause problems with bowel movements
High amount of sodium in sweat - higher risk of dehydration
Infertility - male CF patients often infertile, born without vas deferens
What symptoms may present at birth?
Roughly 10% of babies born with serious bowel obstruction that requires surgery
Babies may show signs of jaundice
What are the common symptoms of CF in the lungs?
Persistent cough Coughing fits Inflammation in the lungs Recurring chest and lung infections Cross infection Impaired diaphragm movement from enlarged liver
What are the common symptoms of CF in the digestive system?
Often malnourished/ stunted growth
May lead to delayed puberty
List 5 other possible symptoms of CF outside of the respiratory system and digestive tract
Diabetes Sinusitis Nasal Polyps Arthritis Osteoporosis Urinary incontinence Liver failure
Give 5 possible treatments for people with CF
Medication - bronchidilators, antibiotics, mucolytics, steroids Dietary advice Education Exercise PT - e.g. percussion Lung transplant Psychological support
