| Literature DB >> 21658649 |
C Bombieri1, 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, G R Cutting, P Drevínek, P Farrell, J S Elborn, K Jarvi, B Kerem, E Kerem, M Knowles, M Macek, A Munck, D Radojkovic, M Seia, D N Sheppard, K W Southern, M Stuhrmann, E Tullis, J Zielenski, P F Pignatti, C Ferec.
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.Entities:
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Year: 2011 PMID： 21658649 DOI： 10.1016/S1569-1993(11)60014-3
Source DB: PubMed Journal: J Cyst Fibros ISSN： 1569-1993 Impact factor: 5.482