Recommendations for the classification of diseases as CFTR-related disorders

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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, G.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.

Edité par CCSD ; Elsevier -

International audience. 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.

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