Elsevier

The Journal of Pediatrics

Volume 181, Supplement, February 2017, Pages S4-S15.e1
The Journal of Pediatrics

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

https://doi.org/10.1016/j.jpeds.2016.09.064Get rights and content
Under a Creative Commons license
open access

Objective

Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria.

Study design

To improve diagnosis and achieve standardized definitions worldwide, the CF Foundation convened a committee of 32 experts in CF diagnosis from 9 countries to develop clear and actionable consensus guidelines on the diagnosis of CF and to clarify diagnostic criteria and terminology for other disorders associated with CFTR mutations. An a priori threshold of ≥80% affirmative votes was required for acceptance of each recommendation statement.

Results

After reviewing relevant literature, the committee convened to review evidence and cases. Following the conference, consensus statements were developed by an executive subcommittee. The entire consensus committee voted and approved 27 of 28 statements, 7 of which needed revisions and a second round of voting.

Conclusions

It is recommended that diagnoses associated with CFTR mutations in all individuals, from newborn to adult, be established by evaluation of CFTR function with a sweat chloride test. The latest mutation classifications annotated in the Clinical and Functional Translation of CFTR project (http://www.cftr2.org/index.php) should be used to aid in diagnosis. Newborns with a high immunoreactive trypsinogen level and inconclusive CFTR functional and genetic testing may be designated CFTR-related metabolic syndrome or CF screen positive, inconclusive diagnosis; these terms are now merged and equivalent, and CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis may be used. International Statistical Classification of Diseases and Related Health Problems, 10th Revision codes for use in diagnoses associated with CFTR mutations are included.

Keywords

newborn screening
CF-screen positive, inconclusive diagnosis
CFTR-related metabolic syndrome
immunoreactive trypsinogen
intestinal current measurement
nasal potential difference
pancreatitis associated protein
sweat test

Abbreviations

CF
Cystic fibrosis
CFSPID
CF screen positive, inconclusive diagnosis
CFTR
CF transmembrane conductance regulator
CFTR2
Clinical and Functional Translation of CFTR
CRMS
CFTR-related metabolic syndrome
ECFS
European CF Society
ICD-10
International Statistical Classification of Diseases and Related Health Problems, 10th Revision
ICM
Intestinal current measurement
IRT
Immunoreactive trypsinogen
NBS
Newborn screening
NPD
Nasal potential difference

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List of 2015 CF Foundation Diagnosis Consensus Conference Committee and Executive Subcommittee members is available at www.jpeds.com (Appendix).

Please see the author disclosures at the end of this article.