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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -20 مورد

Criteria for the diagnosis of cystic fibrosis

Criteria for the diagnosis of cystic fibrosis
At least 1 of the following:
  • 1 or more typical phenotypic features of CF:
    • Chronic pulmonary disease
    • Chronic sinusitis
    • Characteristic gastrointestinal and nutritional abnormalities
    • Salt loss syndromes
    • Obstructive azoospermia
  • History of CF in a sibling
  • Positive newborn screening test
PLUS at least 1 of the following:
  • Elevated sweat chloride concentration
  • 2 CFTR gene mutations known to cause CF on separate alleles*
  • Abnormalities in NPD testing that are typical for CF

CF: cystic fibrosis; CFTR: cystic fibrosis transmembrane conductance regulator gene; NPD: nasal potential difference.

* Using mutation classifications identified in the CFTR2 project.

¶ NPD testing measures abnormalities in ion transport across the nasal epithelium.

Data from: Farrell PM, White TB, Ren CL, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr 2017; 181S:S4.
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