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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

335 Scopus citations

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 languageAmerican English
Pages (from-to)S86-S102
JournalJournal of Cystic Fibrosis
Volume10
Issue numberSUPPL. 2
DOIs
StatePublished - Jul 2011

Bibliographical note

Funding Information:
We would like to particularly thank, Dr Dominique Hu-bert (Paris), Dr Dominique Grenet (Suresnes), Dr Laurence Bassinet (Créteil), Dr Vincent Izard (Clamart), Dr Jean-Claude Soufir (Paris) and Dr Jean-Marc Rigot (Lille) for their excellent assistance with the diagnostic algorithms and Drs Peter Durie and Tanja Gonska (Toronto) for stimulating discussions. This work was supported by the European Union Sixth Framework Programme (contract no. LSHM-CT-2005-018932, EuroCareCF) and the Czech Ministry of Health (MZ0FNM2005 to Milan Macek Jr).

Keywords

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

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