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, GR Cutting, P Drevínek, P Farrell, JS Elborn, K Jarvi, B KeremE Kerem, M Knowles, Jr Macek M, A Munck, D Radojkovic, M Seia, DN Sheppard, KW Southern, M Stuhrmann, E Tullis, J Zielenski, PF Pignatti, C Ferec

Research output: Contribution to journalArticle (Academic Journal)peer-review

332 Citations (Scopus)


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.
Translated title of the contributionRecommendations for the classification of diseases as CFTR-related disorders
Original languageEnglish
Pages (from-to)S86 - S102
Number of pages17
JournalJournal of Cystic Fibrosis
Volume10 Supplement 2
Publication statusPublished - Jun 2011

Bibliographical note

Publisher: Elsevier B.V


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