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.
| Original language | English |
|---|---|
| Journal | Journal of Cystic Fibrosis |
| Volume | 10 |
| Issue number | SUPPL. 2 |
| DOIs | |
| Publication status | Published - Jul 2011 |
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Keywords
- Bronchiectasis
- CBAVD (Congenital Bilateral Absence of Vas Deferens)
- CFTR-related disorders
- Functional tests
- ICM (Intestinal Current Measurement)
- NPD (Nasal Potential Difference)
- Pancreatitis
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
- Pediatrics, Perinatology, and Child Health
Cite this
Recommendations for the classification of diseases as CFTR-related disorders. / Bombieri, C.; Claustres, M.; De Boeck, K.; Derichs, N.; Dodge, J.; Girodon, E.; Sermet, I.; Schwarz, M.; Tzetis, M.; Wilschanski, M.; Bareil, C.; Bilton, D.; Castellani, C.; Cuppens, H.; 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.
In: Journal of Cystic Fibrosis, Vol. 10, No. SUPPL. 2, 07.2011.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Recommendations for the classification of diseases as CFTR-related disorders
AU - Bombieri, C.
AU - Claustres, M.
AU - De Boeck, K.
AU - Derichs, N.
AU - Dodge, J.
AU - Girodon, E.
AU - Sermet, I.
AU - Schwarz, M.
AU - Tzetis, M.
AU - Wilschanski, M.
AU - Bareil, C.
AU - Bilton, D.
AU - Castellani, C.
AU - Cuppens, H.
AU - Cutting, G. R.
AU - Drevínek, P.
AU - Farrell, P.
AU - Elborn, J. S.
AU - Jarvi, K.
AU - Kerem, B.
AU - Kerem, E.
AU - Knowles, M.
AU - Macek, M.
AU - Munck, A.
AU - Radojkovic, D.
AU - Seia, M.
AU - Sheppard, D. N.
AU - Southern, K. W.
AU - Stuhrmann, M.
AU - Tullis, E.
AU - Zielenski, J.
AU - Pignatti, P. F.
AU - Ferec, C.
PY - 2011/7
Y1 - 2011/7
N2 - 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.
AB - 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.
KW - Bronchiectasis
KW - CBAVD (Congenital Bilateral Absence of Vas Deferens)
KW - CFTR-related disorders
KW - Functional tests
KW - ICM (Intestinal Current Measurement)
KW - NPD (Nasal Potential Difference)
KW - Pancreatitis
UR - http://www.scopus.com/inward/record.url?scp=79958122789&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79958122789&partnerID=8YFLogxK
U2 - 10.1016/S1569-1993(11)60014-3
DO - 10.1016/S1569-1993(11)60014-3
M3 - Article
C2 - 21658649
AN - SCOPUS:79958122789
VL - 10
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
SN - 1569-1993
IS - SUPPL. 2
ER -