title: 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.
authors.affiliation: Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bombieri
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: K
authors.initials: K
authors.lastname: De Boeck
authors.forename: N
authors.initials: N
authors.lastname: Derichs
authors.forename: J
authors.initials: J
authors.lastname: Dodge
authors.forename: E
authors.initials: E
authors.lastname: Girodon
authors.forename: I
authors.initials: I
authors.lastname: Sermet
authors.forename: M
authors.initials: M
authors.lastname: Schwarz
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: M
authors.initials: M
authors.lastname: Wilschanski
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: D
authors.initials: D
authors.lastname: Bilton
authors.forename: C
authors.initials: C
authors.lastname: Castellani
authors.forename: H
authors.initials: H
authors.lastname: Cuppens
authors.forename: G R
authors.initials: GR
authors.lastname: Cutting
authors.forename: P
authors.initials: P
authors.lastname: Drevínek
authors.forename: P
authors.initials: P
authors.lastname: Farrell
authors.forename: J S
authors.initials: JS
authors.lastname: Elborn
authors.forename: K
authors.initials: K
authors.lastname: Jarvi
authors.forename: B
authors.initials: B
authors.lastname: Kerem
authors.forename: E
authors.initials: E
authors.lastname: Kerem
authors.forename: M
authors.initials: M
authors.lastname: Knowles
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: A
authors.initials: A
authors.lastname: Munck
authors.forename: D
authors.initials: D
authors.lastname: Radojkovic
authors.forename: M
authors.initials: M
authors.lastname: Seia
authors.forename: D N
authors.initials: DN
authors.lastname: Sheppard
authors.forename: K W
authors.initials: KW
authors.lastname: Southern
authors.forename: M
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: E
authors.initials: E
authors.lastname: Tullis
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: C
authors.initials: C
authors.lastname: Ferec
mesh_terms: D003550:Cystic Fibrosis / Q000145:classification* / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005060:Europe; D006801:Humans; D008511:Medicine / Q000592:standards*; D017410:Practice Guidelines as Topic
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator