[HTML][HTML] Recommendations for the classification of diseases as CFTR-related disorders

C Bombieri, M Claustres, K De Boeck, N Derichs… - Journal of Cystic …, 2011 - Elsevier
C Bombieri, M Claustres, K De Boeck, N Derichs, J Dodge, E Girodon, I Sermet, M Schwarz…
Journal of Cystic Fibrosis, 2011Elsevier
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 …
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.
Elsevier