Recommendations for the classification of diseases as CFTR-related disorders

C. Bombieri, M. Claustres, K. De Boeck, N. Derichs, J. Dodge, E. Girodon, I. Sermet, M. Schwarz, M. Tzetis, M. Wilschanski, C. Bareil, D. Bilton, C. Castellani, H. Cuppens, Garry R Cutting, P. Drevínek, P. Farrell, J. S. Elborn, K. Jarvi, B. KeremE. Kerem, M. Knowles, M. Macek, A. Munck, D. Radojkovic, M. Seia, D. N. Sheppard, K. W. Southern, M. Stuhrmann, E. Tullis, J. Zielenski, P. F. Pignatti, C. Ferec

Research output: Contribution to journalArticle

Abstract

Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops.A CFTR-RD may be defined as "a clinical entity associated with CFTR dysfunction that does not fulfil diagnostic criteria for CF" .The utility of sweat testing, mutation analysis, nasal potential difference, and/or intestinal current measurement for the differential diagnosis of CF and CFTR-RD is discussed. Algorithms which use genetic and functional diagnostic tests to distinguish CF and CFTR-RDs are presented.According to present knowledge, congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis and disseminated bronchiectasis, all with CFTR dysfunction, are CFTR-RDs.

Original languageEnglish (US)
JournalJournal of Cystic Fibrosis
Volume10
Issue numberSUPPL. 2
DOIs
StatePublished - Jul 2011

Fingerprint

Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis
Bronchiectasis
Sweat
Chronic Pancreatitis
Nose
Routine Diagnostic Tests
Differential Diagnosis
Guidelines
Education
Mutation

Keywords

  • Bronchiectasis
  • CBAVD (Congenital Bilateral Absence of Vas Deferens)
  • CFTR-related disorders
  • Functional tests
  • ICM (Intestinal Current Measurement)
  • NPD (Nasal Potential Difference)
  • Pancreatitis

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

Bombieri, C., Claustres, M., De Boeck, K., Derichs, N., Dodge, J., Girodon, E., ... Ferec, C. (2011). Recommendations for the classification of diseases as CFTR-related disorders. Journal of Cystic Fibrosis, 10(SUPPL. 2). https://doi.org/10.1016/S1569-1993(11)60014-3

Recommendations for the classification of diseases as CFTR-related disorders. / Bombieri, C.; Claustres, M.; De Boeck, K.; Derichs, N.; Dodge, J.; Girodon, E.; Sermet, I.; Schwarz, M.; Tzetis, M.; Wilschanski, M.; Bareil, C.; Bilton, D.; Castellani, C.; Cuppens, H.; Cutting, Garry R; Drevínek, P.; Farrell, P.; Elborn, J. S.; Jarvi, K.; Kerem, B.; Kerem, E.; Knowles, M.; Macek, M.; Munck, A.; Radojkovic, D.; Seia, M.; Sheppard, D. N.; Southern, K. W.; Stuhrmann, M.; Tullis, E.; Zielenski, J.; Pignatti, P. F.; Ferec, C.

In: Journal of Cystic Fibrosis, Vol. 10, No. SUPPL. 2, 07.2011.

Research output: Contribution to journalArticle

Bombieri, C, Claustres, M, De Boeck, K, Derichs, N, Dodge, J, Girodon, E, Sermet, I, Schwarz, M, Tzetis, M, Wilschanski, M, Bareil, C, Bilton, D, Castellani, C, Cuppens, H, Cutting, GR, Drevínek, P, Farrell, P, Elborn, JS, Jarvi, K, Kerem, B, Kerem, E, Knowles, M, Macek, M, Munck, A, Radojkovic, D, Seia, M, Sheppard, DN, Southern, KW, Stuhrmann, M, Tullis, E, Zielenski, J, Pignatti, PF & Ferec, C 2011, 'Recommendations for the classification of diseases as CFTR-related disorders', Journal of Cystic Fibrosis, vol. 10, no. SUPPL. 2. https://doi.org/10.1016/S1569-1993(11)60014-3
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E et al. Recommendations for the classification of diseases as CFTR-related disorders. Journal of Cystic Fibrosis. 2011 Jul;10(SUPPL. 2). https://doi.org/10.1016/S1569-1993(11)60014-3
Bombieri, C. ; Claustres, M. ; De Boeck, K. ; Derichs, N. ; Dodge, J. ; Girodon, E. ; Sermet, I. ; Schwarz, M. ; Tzetis, M. ; Wilschanski, M. ; Bareil, C. ; Bilton, D. ; Castellani, C. ; Cuppens, H. ; Cutting, Garry R ; Drevínek, P. ; Farrell, P. ; Elborn, J. S. ; Jarvi, K. ; Kerem, B. ; Kerem, E. ; Knowles, M. ; Macek, M. ; Munck, A. ; Radojkovic, D. ; Seia, M. ; Sheppard, D. N. ; Southern, K. W. ; Stuhrmann, M. ; Tullis, E. ; Zielenski, J. ; Pignatti, P. F. ; Ferec, C. / Recommendations for the classification of diseases as CFTR-related disorders. In: Journal of Cystic Fibrosis. 2011 ; Vol. 10, No. SUPPL. 2.
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AU - Girodon, E.

AU - Sermet, I.

AU - Schwarz, M.

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