Pediatric Respiratory Conditions/Diseases ii

• II. CYSTIC FIBROSIS (CF) or MUCOVISCIDOSIS

  • Genetic abnormality and malfunction of exocrine glands (i.e. pancreas, sweat glands, salivary glands, respiratory mucosal glands).
  • CF affects mainly Caucasians, at a rate of approximately 1 in 25,000 births.
  • Patients usually die at a median age of 31 years old (2002); in 2012, it is 41 years old.
  • CF is an autosomal recessive disorder (both parents have passed a mutated gene on their child).
  • It is caused by mutations of the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).
• Clinical Manifestations of CF

  • Chronic pulmonary disease (increased tenacious mucus production which causes airway obstruction). Pulmonary complications include bronchitis and bronchiolitis
  • Pancreatic insufficiency; poor digestion of fat and fat soluble vitamins
  • Increased electrolyte concentration in sweat particularly chloride.
• Clinical Manifestations of CF

  • Recurrent infections (Staphylococcus aureus, Pseudomonas spp.) eventually result to bronchiectasis
  • Barrel chest, digital clubbing, cyanotic, intercostal retractions, hemoptysis, cor-pulmonale
  • Frequent cough, tachypnea and wheezing
  • Stools are steatorrhea (fatty and gray in appearance)
• Diagnosis of CF

  • Increased chloride level in sweat (>60 meq/L); pilocarpine sweat chloride test (iontophoresis); at least 2 positive tests.
  • Increased amount of fat in stool; decreased amount of trypsin in stool.
  • Decreased blood Na+ , Cl levels
  • CXR: hyperinflation, atelectasis, PTX may develop
  • ABG: hypoxemic, hypercapneic
• Management of CF Patient

  1. Aggressive bronchial hygiene: a. CPT – percussion, postural drainage (PD) b. Use of assisted airway clearance devices (PEP or flutter valves)
  2. Aerosol therapy a. use of mucolytics, bronchodilators, recombinant deoxyribonuclease – Dnase, 7% hypertonic saline
  3. Antibiotics if indicated a. azithromycin (recommended for >6 years old) b. inhaled tobramycin, inhaled aztreonam
  4. Oxygen therapy
• PEP and Flutter Devices

  
• Management of CF Patient

  • Decrease fat diet; increased protein, caloric intake; vitamin supplements, pancreatic enzymes
  • Ivacaftor – a potentiator that activates defective CFTR; improves lung function and reduces pulmonary exacerbations; decreases sweat Cl- concentration
  • Lung transplantation – an option for advanced severe CF lung disease