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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Criteria for the diagnosis of cystic fibrosis