作者
Cristina Bombieri, 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, GR Cutting, P Drevínek, P Farrell, JS Elborn, K Jarvi, B Kerem, E Kerem, M Knowles, M Macek Jr, A Munck, D Radojkovic, M Seia, DN Sheppard, KW Southern, M Stuhrmann, E Tullis, J Zielenski, PF Pignatti, C Ferec
发表日期
2011/6/1
期刊
Journal of Cystic Fibrosis
卷号
10
页码范围
S86-S102
出版商
Elsevier
简介
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 …
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C Bombieri, M Claustres, K De Boeck, N Derichs… - Journal of Cystic Fibrosis, 2011