@article{3111548,
    title = "Recommendations for the classification of diseases as CFTR-related disorders",
    author = "Bombieri, C. and Claustres, M. and De Boeck, K. and Derichs, N. and Dodge, J. and Girodon, E. and Sermet, I. and Schwarz, M. and Tzetis, M. and Wilschanski, M. and Bareil, C. and Bilton, D. and Castellani, C. and Cuppens, H. and Cutting, G.R. and Drevínek, P. and Farrell, P. and Elborn, J.S. and Jarvi, K. and Kerem, B. and Kerem, E. and Knowles, M. and Macek, M. and Munck, A. and Radojkovic, D. and Seia, M. and Sheppard, D.N. and Southern, K.W. and Stuhrmann, M. and Tullis, E. and Zielenski, J. and Pignatti, P.F. and Ferec, C.",
    journal = "Journal of Cystic Fibrosis",
    year = "2011",
    volume = "10",
    number = "SUPPL. 2",
    pages = "S86-S102",
    issn = "1569-1993",
    doi = "10.1016/S1569-1993(11)60014-3",
    keywords = "chloride;  transmembrane conductance regulator, acute pancreatitis;  allele;  article;  bronchiectasis;  chronic pancreatitis;  clinical feature;  congenital bilateral absence of vas deferens;  congenital malformation;  coughing;  cystic fibrosis;  diagnostic procedure;  differential diagnosis;  disease association;  disease classification;  disease severity;  DNA polymorphism;  electrolyte transport;  gene interaction;  gene mutation;  heterozygosity;  human;  intestinal current measurement;  mutational analysis;  nasal potential difference;  newborn screening;  outcome assessment;  pancreas insufficiency;  potential difference;  respiratory tract disease;  respiratory tract infection;  sweat test, Cystic Fibrosis;  Cystic Fibrosis Transmembrane Conductance Regulator;  Europe;  Humans;  Medicine;  Practice Guidelines as Topic",
    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."
}