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, G. 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 journalArticlepeer-review


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
JournalJournal of Cystic Fibrosis
Issue numberSUPPL. 2
Publication statusPublished - Jul 2011


  • 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


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