Recommendations for the classification of diseases as CFTR-related disorders

Authors :: 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.
Publication Year :: 2011
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. © 2011 European Cystic Fibrosis Society.