Patho 2- Cystic Fibrosis Flashcards
Definition of Cystic fibrosis
Inherited autosomal recessive disease (genetic)
Result of gene mutation- single gene deficit on chromosome 7
Cystic fibrosis background
Gene deficit of chromosome 7
Encoding CF membrane conductance regulator, a transmembrane protein involved in ion transport called CF transmembrane regulatory (CTFR) protein.
Leads to compromise in ion transport- impairs chloride ion transport and affects levels of sodium and water in cell.
Affects several organs causing ducts to be obstructed with mucus
CFTR protein
Channel protein
Controls flow of water and chloride ion between membrane
When structure changed ion passage is blocked
Defect in CFTR results in
Respiratory disease High sodium sweat Pancreatic insufficiency Biliary disease Infertility Cirrhosis of the liver Gastrointestinal disease
Diagnosis of Cystic fibrosis
Genetic testing- mouth wash or blood test
Heal prick test
Sweat test
Symptoms at birth for Cystic fibrosis
10% born with serious bowel obstruction
Meconium is thick, black substance- too thick causes bowel blockage
Signs of jaundice
Symptoms of Cystic fibrosis
Lungs- persistent cough Coughing fits Inflammation- wheezing, SOB, difficulty breathing Cross infection Impaired diaphragm from enlarge liver
Digestive system- large smelly stools
Malnutrition/ poor weight gain/ stunted growth
Other symptoms of Cystic fibrosis
Diabetes Sinusitis Nasal polyps Arthritis Osteoporosis Infertility Liver failure Urinary incontinence Delayed puberty Msk system- insp muscle activity Weakness/ atrophy in antigravity muscles e.g. gastrocnemius Kyphosis of spine- neck/back pain
Medication Treatment of Cystic fibrosis
Medication: Bronchiodilators Hypertonic saline nebs Antibiotics Mucolytic (DNAse) Steroids Routine vaccinations Digestive enzymes (creon) Dietary advice Education Exercise
Physio treatment of Cystic fibrosis
PD Percussion, vibs, shakes ACBT AD Adjuncts Mobs/exercise Suction (ITN) Lung transplant Psychological support
Diagnosis of Cystic fibrosis
No cure/prevention
Lung complications big cause of death
Quality of life- depends on specific protein mutation (1500 types) environmental and developmental factors
