Criteria for the diagnosis of cystic fibrosis

At least one of the following:

One 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 one of the following:

Elevated sweat chloride concentration

Two 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 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