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Cystic fibrosis

Definition
CF is an inherited multiorgan disease characterized by recurrent cough, wheeze, and pneumonia, sinusitis, and male infertility.
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Pathophysiology
CF is caused by a mutation in the CFTR gene.
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Disease course
Genetic mutations in CFTR gene result in CF, which causes clinical manifestations of recurrent respiratory symptoms of cough, wheeze, and pneumonias, nasal polyps, sinusitis, finger clubbing, male infertility, exocrine pancreatic insufficiency (steatorrhea, diarrhea, abdominal distension, poor growth in infants, pancreatitis), GERD, meconium ileus, distal intestinal obstruction syndrome, celiac disease, malabsorption, Crohn's disease, constipation, rectal prolapse, fatty liver, cirrhosis, diabetes, osteopenia, acute collapse, vaginal candidiasis, and stress incontinence. Disease progression may lead to death.
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Prognosis and risk of recurrence
The in-hospital mortality of CF is 0.71%.
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Key sources
The following summarized guidelines for the evaluation and management of cystic fibrosis are prepared by our editorial team based on guidelines from the American Diabetes Association (ADA 2024), the National Society of Genetic Counselors (NSGC 2014), the Clinical Pharmacogenetics Implementation Consortium (CPIC 2014), and the Cystic Fibrosis Foundation (CFF 2013).
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Guidelines

1.Screening and diagnosis

Carrier testing: offer carrier testing for CF to:
women of reproductive age, regardless of ancestry, and preferably preconceptionally
individuals with a family history of CF
partners of mutation carriers and people with CF
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2.Diagnostic investigations

Genetic testing: review and re-interpret prior carrier screening results in light of current knowledge when individuals present for genetic counseling. The inclusion and exclusion of mutations on availableCFTR mutation screening panels remains a dynamic process as new information is learned about the pathogenicity ofCFTR mutations.

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  • Screening for diabetes

3.Medical management

Ivacaftor: as per CPIC 2014 guidelines, use ivacaftor according to the product label (150 mg every 12 h) for patients ≥ 6 years without other diseases; adjust dosing as appropriate in patients with hepatic impairment.
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  • Dornase alfa

  • Inhaled hypertonic saline

  • Inhaled tobramycin

  • Inhaled aztreonam

  • Other inhaled antibiotics

  • Prophylactic azithromycin

  • Other prophylactic oral antibiotics

  • ICSs

  • Oral corticosteroids

  • Leukotriene modifiers

  • Inhaled anticholinergics

  • Inhaled beta-2 adrenergic receptor agonists

  • Oral antistaphylococcal antibiotics

  • N-acetylcysteine and glutathione

  • Ibuprofen

4.Patient education

Post-carrier screening counseling: genetic counselors offering CF carrier screening should ensure that they are providing the most current information to patients regarding the range of symptoms, potential treatment options, and QoL issues associated with CF and theCFTR -related disease spectrum.