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Updated: Dec 24 2021

Cystic Fibrosis

  • Snapshot
    • A 3-year-old boy presents to his pediatrician for fever and a cough. He has a history of recurrent pneumonia and chronic diarrhea. His mother states that he has 6-8 foul smelling stools per day. His temperature is 101.0°F (38.3°C), blood pressure is 95/55 mmHg, pulse is 120/min, and respirations are 28/min. Physical exam is notable for scattered rhonchi in the bilateral lung fields with hepatomegaly. Sweat chloride testing is elevated on 2 separate occasions.
  • Introduction
    • Definition
      • autosomal recessive exocrinopathy
    • An autosomal recessive mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a chloride channel, on chromosome 7
  • Epidemiology
    • Incidence
      • most commonly affects Caucasians
      • ΔF508 mutation is the most common mutation
  • Etiology
    • Pathogenesis
      • a defect in the CFTR gene leads to impaired chloride and water transport
        • this causes viscous secretions in the
          • respiratory tract
          • exocrine pancreas
          • sweat glands
          • intestines
          • genitourinary tract
    • Associated conditions
      • nasal polyposis
      • infertility in men and subfertility in women
      • pancreatic insufficiency
  • Presentation
    • Symptoms
      • a productive cough
      • respiratory symptoms are more prominent in adulthood
        • recurrent pulmonary infections
          • S. aureus is more common in pediatric patients (treat with vancomycin)
          • Pseudomonal spp. are more common in adults (treat with amikacin, ceftazidime, and ciprofloxacin)
        • chronic sinusitis
        • chronic productive cough
        • dyspnea on exertion
        • bronchiectasis
      • gastrointestinal symptoms are more prominent in infancy
        • chronic and frequent diarrhea
          • greasy stool with flatulence from malabsorption secondary to pancreatic insufficiency
          • can lead to rectal prolapse
        • meconium ileus in infants (15%)
      • signs of fat-soluble vitamin deficiency
    • Physical exam
      • failure to thrive (50%)
      • respiratory compromise (50%)
      • "salty taste"
      • cyanosis
      • digital clubbing
      • rhonchi
      • rales
      • hyperresonance to percussion
      • nasal polyposis
      • infertility
    • Making the diagnosis is based on
      • clinical symptoms that are consistent with cystic fibrosis in at least 1 organ system
      • evidence of CFTR gene dysfunction
        • elevated sweat chloride test
          • ≥ 60 mmol/L on 2 occasions
            • sufficient to confirm the diagnosis in patients with clinical symptoms suggestive of cystic fibrosis
        • abnormal nasal potential difference
        • genetic testing
  • Treatment
    • Conservative
      • chest physical therapy
        • indication
          • to clean airways and decrease the risk of airway infection
      • fat-soluble vitamin supplementation
        • indication
          • to decrease the risk of fat-soluble vitamin deficiency
      • vaccinations
        • indication
          • used as a preventative measure for pulmonary infection
        • vaccinations
          • influenza
          • pneumococcal
    • Medical
      • antibiotics
        • indication
          • to treat and prevent pulmonary infection
      • pancreatic enzyme replacement therapy
        • indication
          • to manage pancreatic insufficiency
  • Complications
    • Bronchopulmonary
      • lower airway infection (e.g., Pseudomonas)
      • bronchiectasis
    • Gastrointestinal
      • cholestasis
      • intestinal atresia
      • malnutrition and malabsorption
      • intestinal impaction
      • meconium ileus
    • Hepatobiliary
      • pancreatic insufficiency
    • Endocrine
      • diabetes
      • infertility due to congenital absence of the vas deferens
      • decreased fertility in females
  • Prognosis
    • Most of the morbidity and mortality associated with this condition is secondary to pulmonary disease
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