Recommendations for the classification of diseases as CFTR-related disorders

C. 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; G. R. Cutting; P. Drevínek; P. Farrell; J. S. Elborn; K. Jarvi; B. Kerem; E. Kerem; M. Knowles; M. Macek; A. Munck; D. Radojkovic; M. Seia; D. N. Sheppard; K. W. Southern; M. Stuhrmann; E. Tullis; J. Zielenski; P. F. Pignatti; C. Ferec

doi:10.1016/S1569-1993(11)60014-3

Recommendations for the classification of diseases as CFTR-related disorders

C. 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, G. R. Cutting, P. Drevínek, P. Farrell, J. S. Elborn, K. Jarvi, B. KeremE. Kerem, M. Knowles, M. Macek, A. Munck, D. Radojkovic, M. Seia, D. N. Sheppard, K. W. Southern, M. Stuhrmann, E. Tullis, J. Zielenski, P. F. Pignatti, C. Ferec

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1016/S1569-1993(11)60014-3
Publication status	Published - Jul 2011

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

Access to Document

10.1016/S1569-1993(11)60014-3

Fingerprint Dive into the research topics of 'Recommendations for the classification of diseases as CFTR-related disorders'. Together they form a unique fingerprint.

Cite this

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., ... Ferec, C. (2011). Recommendations for the classification of diseases as CFTR-related disorders. Journal of Cystic Fibrosis, 10(SUPPL. 2). https://doi.org/10.1016/S1569-1993(11)60014-3

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 › peer-review

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, GR, Drevínek, P, Farrell, P, Elborn, JS, Jarvi, K, Kerem, B, Kerem, E, Knowles, M, Macek, M, Munck, A, Radojkovic, D, Seia, M, Sheppard, DN, Southern, KW, Stuhrmann, M, Tullis, E, Zielenski, J, Pignatti, PF & Ferec, C 2011, 'Recommendations for the classification of diseases as CFTR-related disorders', Journal of Cystic Fibrosis, vol. 10, no. SUPPL. 2. https://doi.org/10.1016/S1569-1993(11)60014-3

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. / Recommendations for the classification of diseases as CFTR-related disorders. In: Journal of Cystic Fibrosis. 2011 ; Vol. 10, No. SUPPL. 2.

@article{7e4a89961adb4e0c945850214ccbaa11,

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.",

keywords = "Bronchiectasis, CBAVD (Congenital Bilateral Absence of Vas Deferens), CFTR-related disorders, Functional tests, ICM (Intestinal Current Measurement), NPD (Nasal Potential Difference), Pancreatitis",

author = "C. Bombieri and M. Claustres and {De Boeck}, K. and N. Derichs and J. Dodge and E. Girodon and I. Sermet and M. Schwarz and M. Tzetis and M. Wilschanski and C. Bareil and D. Bilton and C. Castellani and H. Cuppens and Cutting, {G. R.} and P. Drev{\'i}nek and P. Farrell and Elborn, {J. S.} and K. Jarvi and B. Kerem and E. Kerem and M. Knowles and M. Macek and A. Munck and D. Radojkovic and M. Seia and Sheppard, {D. N.} and Southern, {K. W.} and M. Stuhrmann and E. Tullis and J. Zielenski and Pignatti, {P. F.} and C. Ferec",

year = "2011",

month = jul,

doi = "10.1016/S1569-1993(11)60014-3",

language = "English",

volume = "10",

journal = "Journal of Cystic Fibrosis",

issn = "1569-1993",

publisher = "Elsevier",

number = "SUPPL. 2",

}

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 -