Cystic fibrosis

• What is cystic fibrosis?

  Autosomal recessive disorder
• What causes cystic fibrosis?

  Mutations in the CFTR gene
• What does CFTR stand for?

  Cystic fibrosis transmembrane conductance regulator
• What does the CFTR gene encode for?

  A protein responsible for regulating the transport of cloride and sodium ions across apithelial surfaces
• What does the dysfunction of CFTR lead to?

  Production of thick, sticky mucus that obstructs organs - primaritly affecting the resp and GI systems
• What are some pulmonary manifestations of CF?

  Chronic bronchitis, bronchiectasis and recurrent infections
• What is the most likely pathogenic cause of recurrent chest infections in CF?

  Pseudomonas aeruginosa
• WHat are some GI complications in CF?

  Pancreatic insufficiency

  Malabsoorptions

  Liver disease
• What is a complication CF causes that is specific to men?

  Infertility
• How does CF cause male infertility?

  Congenital bilateral absence of the vas deferens
• Who is CF most commonly seen in?

  Infants
• What happens if there is mucus accumulation in the respiratory system?

  Thick, sticky mucus hinders mucociliary clearance = increase chance of bacterial colonisation
• What happens if there are recurrent infections in the respiratory system?

  Chronic inflammation + physical obstruction from mucus = increased airway damage
• How doe CF progressively damage the lungs?

  Repeated infection + inflammation = structural change = bronchiectasis -> resp failure
• What happens if there is a pacreatic block in the GI system?

  Decrease release of digestive enzymes into small intestine -> malabsorption, steatorrhoea and malnutrition
• How do intestinal obstructions occur in CF?

  Thick mucus blocks intestines:

  Meconium ileus (in neonates)

  Distal intestinal obstruction syndrome (older individuals)
• How can the liver be impacted in CF?

  Biliary ducts become obstructed = liver diseases e.g. focal biliary cirrhosis
• How does CF impact females?

  Thickened cervical mucus -> hard for sperm migration -> decreased fertility

  May experience irregular periods
• When is the newborn blood sport day?

  Day 5 of life
• is the blood spot test diagnostic?

  No
• What happens after a positive blood spot test for CF?

  Referred to a CF specialist clinic for further investivagtions
• What is the primary sign of CFTR dysfuntion in an infant child?

  Symptomatic meconium ileus
• What are the clinical features of CF in older children?

  Chronic cough

  Recurrent wheezing

  Chronic resp infections

  Malabsorption in GI tract

  Failure to thrive
• What is the characteristics of a cough from someone with CF?

  Can be both productive or non-productive

  Exacerbated by mucus accumulation and infections
• How does CF cause wheeze and dyspnea?

  Airway obstruction and bronchospasm
• What are some common pathogens that cause respiratory infections in CF?

  Staphylococcus aureus, Haemophilus influenzae and Pseudomonas aeruginosa
• What causes nasal polyp and chronic sinusitis in CF?

  Mucus buildup and chronic inflammation in the sinuses
• What issues does a pancreatic duct obstruction cause?

  Steatorrhea

  Weight loss

  Malabsorption of fat soluable vitamins
• What can cause distal intestinal obstruction syndrome in CF?

  Inspissated faecal material
• What is distal intestinal obstruction syndrome in CF?

  Partial or complete intestinal obstruction
• What are some GI manifestations if CF?

  Meconium ileus

  Pancreatic insufficiency

  Distal intestinal obstruction syndrome

  Biliary cirrhosis

  GERD
• What are some endocrine manifestations in CF?

  Cystic fibrosisrelated diabetes (CFRD)

  Growth failure
• How does CF cayse cystic fibrosis released diabetes?

  Progressive pancreatic damage -> insulin defniciency and impaired glucose tolerance
• How does CF cause growth failure?

  Causes malabsorption, chronic inflammation and increased energy expenditure = delayed growth and pubertal development
• What are some resp manifestiations in CF?

  Persistent cough

  Wheezing and dyspnoea

  Recurrent resp infections

  Nasal polyps and chronic sinusitis
• What are some screening and diagnostic tests for CF?

  Newborn screening

  Sweat test

  Genetic testing
• What is the gold standard diagnostic test for CF?

  Sweat test
• What are some monitoring tests for CF?

  Sputum culture

  Pulmonary function tests

  Chest scans

  Bloods

  Bone density assessment
• Why is a sputum culture done as a monitoring test?

  Quickly identify pathogens

  Guide antibiotic therapy

  Monitor emerging MDR organisms
• Why are pulmonary function tests done and which ones in CF?

  Which ones:

  • Spirometry
  • lung volume

  Why:

  • Assess lung function
  • monitor disease progression
  • Evaluate treatment efficacy