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

Philip M. Farrell, Terry B. White, Clement L. Ren, Sarah E. Hempstead, Frank Accurso, Nico Derichs, Michelle Howenstine, Susanna A. McColley, Michael Rock, Margaret Rosenfeld, Isabelle Sermet-Gaudelus, Kevin W. Southern, Bruce C. Marshall, Patrick R. Sosnay

Research output: Contribution to journalArticle

148 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)S4-S15
JournalJournal of Pediatrics
Volume181
DOIs
StatePublished - Feb 1 2017

Fingerprint

Cystic Fibrosis
Guidelines
Mutation
Trypsinogen
Cystic Fibrosis Transmembrane Conductance Regulator
Sweat
Genetic Testing
International Classification of Diseases
Politics
Regulator Genes
Terminology
Chlorides

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., ... Sosnay, P. R. (2017). Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. Journal of Pediatrics, 181, S4-S15. https://doi.org/10.1016/j.jpeds.2016.09.064

Diagnosis of Cystic Fibrosis : Consensus Guidelines from the Cystic Fibrosis Foundation. / Farrell, Philip M.; White, Terry B.; Ren, Clement L.; Hempstead, Sarah E.; Accurso, Frank; Derichs, Nico; Howenstine, Michelle; McColley, Susanna A.; Rock, Michael; Rosenfeld, Margaret; Sermet-Gaudelus, Isabelle; Southern, Kevin W.; Marshall, Bruce C.; Sosnay, Patrick R.

In: Journal of Pediatrics, Vol. 181, 01.02.2017, p. S4-S15.

Research output: Contribution to journalArticle

Farrell, PM, White, TB, Ren, CL, Hempstead, SE, Accurso, F, Derichs, N, Howenstine, M, McColley, SA, Rock, M, Rosenfeld, M, Sermet-Gaudelus, I, Southern, KW, Marshall, BC & Sosnay, PR 2017, 'Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation', Journal of Pediatrics, vol. 181, pp. S4-S15. https://doi.org/10.1016/j.jpeds.2016.09.064
Farrell, Philip M. ; White, Terry B. ; Ren, Clement L. ; Hempstead, Sarah E. ; Accurso, Frank ; Derichs, Nico ; Howenstine, Michelle ; McColley, Susanna A. ; Rock, Michael ; Rosenfeld, Margaret ; Sermet-Gaudelus, Isabelle ; Southern, Kevin W. ; Marshall, Bruce C. ; Sosnay, Patrick R. / Diagnosis of Cystic Fibrosis : Consensus Guidelines from the Cystic Fibrosis Foundation. In: Journal of Pediatrics. 2017 ; Vol. 181. pp. S4-S15.
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title = "Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation",
abstract = "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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AU - Howenstine, Michelle

AU - McColley, Susanna A.

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N2 - 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.

AB - 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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