Cystic fibrosis

Cystic Fibrosis Foundation Consensus Guidelines diagnostic criteria[28]Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017 Feb;181S:S4-15.e1. https://www.jpeds.com/article/S0022-3476(16)31048-4/fulltext http://www.ncbi.nlm.nih.gov/pubmed/28129811?tool=bestpractice.com

CF is diagnosed when a person has both a clinical presentation of CF and evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction. Tests should be performed hierarchically to establish the diagnosis, with sweat tests ideally first, followed by CFTR genetic tests, and then CFTR physiologic tests.

All people diagnosed with CF should have at least a sweat test and a CFTR genetic analysis performed.