Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Open accessAbstract
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.
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The resulting mean sweat chloride value in the ELX/TEZ/IVA group is below the diagnostic threshold for CF.
“the resulting mean value is below the diagnostic threshold for CF (figure 3B).18,19”
The mean sweat chloride concentration of 48.0 mmol/L at week 4 is below the diagnostic threshold for CF (60 mmol/L).
“which is below the diagnostic threshold for CF (60 mmol/L).18”
Iontophoresis is currently a widely used method to stimulate local sweat secretion at a selected site.
“Iontophoresis is currently a widely used method to stimulate local sweat secretion at a selected site (21).”
From Autonomous sweat extraction and analysis applied to cystic fibrosis and glucose monitoring using a fully integrated wearable platform (2017) · cites this paper as [21]
A sweat chloride level of at least 60 mM is indicative of a high likelihood of CF, whereas in subjects with sweat chloride below 30 mM the disease is unlikely.
“A sweat chloride level of ≥60 mM is indicative of a high likelihood of CF, whereas in subjects with sweat chloride <30 mM the disease is unlikely (21).”
From Autonomous sweat extraction and analysis applied to cystic fibrosis and glucose monitoring using a fully integrated wearable platform (2017) · cites this paper as [21]
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- Authors
- Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., Howenstine, M., McColley, S. A., Rock, M., Rosenfeld, M., Sermet-Gaudelus, I., Southern, K. W., Marshall, B. C., & Sosnay, P. R.
- Affiliations
- University of Wisconsin–Madison (US)
- Cystic Fibrosis Foundation (US)
- Riley Hospital for Children (US)
- Colorado School of Public Health (US)
- Charité – Universitätsmedizin Berlin (DE)
- Northwestern University (US)
- University of Washington (US)
- University of Liverpool (GB)
- Johns Hopkins University (US)
- ORCID
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2017-02
- Volume
- 181
- Pages
- S4-S15.e1
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2582657518
- Cited by
- 953
- References
- 70
- Citations by year
- 2026: 76 · 2025: 101 · 2024: 94 · 2023: 107 · 2022: 102 · 2021: 133 · 2020: 131 · 2019: 96 · 2018: 75 · 2017: 34 · 2015: 2
- FWCI
- 75.99
- Type
- journal article
- Language
- en
- Update notices
- erratum (2017-05-01)
- Open access
- hybrid
- doi.org
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- Locations
- The Journal of Pediatrics (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- IUScholarWorks (Indiana University) (submittedVersion, cc-by-nc-nd)
- Publisher
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- cystic fibrosis diagnosis, CFTR mutations, sweat test, newborn screening, immunoreactive trypsinogen, CFTR-related metabolic syndrome, diagnostic criteria, ICD-10 codes, consensus recommendations
- MeSH terms
- Pancreatitis-Associated Proteins, Cystic Fibrosis, Humans, Infant, Newborn, Neonatal Screening
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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