Title: Recommendations for the classification of diseases as CFTR-related disorders
Authors: Bombieri, C ×
Claustres, M
De Boeck, Christiane
Derichs, N
Dodge, J
Girodon, E
Sermet, I
Schwarz, M
Tzetis, M
Wilschanski, M
Bareil, C
Bilton, D
Castellani, C
Cuppens Harry, Harry
Cutting, G R
Drevínek, P
Farrell, P
Elborn, J S
Jarvi, K
Kerem, B
Kerem, E
Knowles, M
Macek, M
Munck, A
Radojkovic, D
Seia, M
Sheppard, D N
Southern, K W
Stuhrmann, M
Tullis, E
Zielenski, J
Pignatti, P F
Ferec, C #
Issue Date: Jun-2011
Series Title: Journal of Cystic Fibrosis vol:10 Suppl 2 pages:S86-102
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.
ISSN: 1569-1993
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Organ Systems (+)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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