Cystic Fibrosis

Question 1

Cystic Fibrosis: Define

Answer 1

Cystic Fibrosis is the production of abnormally thick mucus. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator CFTR gene on Chromosome 7. There is defective chloride secretion, and increased sodium absorption across the airway epithelium, and this predisposes the lung to chronic infections.

Question 2

Cystic Fibrosis: Genetic nature, and Prognosis

Answer 2

Autosomal Recessive

Medial survival of 40% in UK (yrs?)

Question 3

Cystic Fibrosis: Symptoms

Answer 3

Cough - persistent 
Wheeze
Sputum - purulent
Fever
Failure to thrive
Recurrent infections
Rectal prolapse
Meconium illues - bowel obsruction that occurs when the meconium in the intestine is even thicker and stickier than normal, creating a blockage in the illeum

Question 4

Cystic Fibrosis: Signs

Answer 4

Crackles
Cyanosis
Crepitations
Finger Clubbing

Question 5

Cystic Fibrosis: Investigations

Answer 5

Sweat Test (diagnostic) - sweat sodium and chloride > 60 mmol/L (Cl is usually greater than Na)
Guthrie Test (diagnostic)
Faecal Elastase (screening) (to check exocrine pancreatic dysfunction)
Abdominal US - fatty liver, cirrhosis, chronic pancreatitis
Aspergillus Precipitations
Spirometry
Sputum Culture
CXR - hyperinflation, bronchiectasis
Bloods - FBC, U&E, LFT, Clotting, Vit A/D/E levels, Annual Glucose Tolerance Test.
Faecal Fat Analysis.

Question 6

Cystic Fibrosis: Management

Answer 6

MDT - GP, Physio, Dietician, Specialist Nurse
Chest Physio
Antibiotics - to treate acute infective exacerbations, as well as prophylaxis
Pancreatic Enzyme Replacement
Fat-soluble Vitamin Supplements A, D, E, K
Oxygen
Diuretics
Mucolytics - reduces the thickness of mucous
Ivacafter
Heart/Lung transplant
Lung/Lung transplant