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Recommendations for the classification of diseases as CFTR-related disorders

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.
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Contributeur : Karine Deletang <>
Soumis le : lundi 20 janvier 2020 - 16:57:12
Dernière modification le : vendredi 15 mai 2020 - 12:22:08



C. Bombieri, M. Claustres, K. de Boeck, N. Derichs, J. Dodge, et al.. Recommendations for the classification of diseases as CFTR-related disorders. Journal of Cystic Fibrosis, Elsevier, 2011, 10, pp.S86-S102. ⟨10.1016/S1569-1993(11)60014-3⟩. ⟨hal-02446244⟩



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