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^*

^*Corresponding author for this work

Department of Genetics

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

347 Scopus citations

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
Pages (from-to)	S86-S102
Journal	Journal of Cystic Fibrosis
Volume	10
Issue number	SUPPL. 2
DOIs	https://doi.org/10.1016/S1569-1993(11)60014-3
State	Published - Jul 2011

Bibliographical note

Funding Information:
We would like to particularly thank, Dr Dominique Hu-bert (Paris), Dr Dominique Grenet (Suresnes), Dr Laurence Bassinet (Créteil), Dr Vincent Izard (Clamart), Dr Jean-Claude Soufir (Paris) and Dr Jean-Marc Rigot (Lille) for their excellent assistance with the diagnostic algorithms and Drs Peter Durie and Tanja Gonska (Toronto) for stimulating discussions. This work was supported by the European Union Sixth Framework Programme (contract no. LSHM-CT-2005-018932, EuroCareCF) and the Czech Ministry of Health (MZ0FNM2005 to Milan Macek Jr).

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/S1569-1993(11)60014-3

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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), S86-S102. https://doi.org/10.1016/S1569-1993(11)60014-3

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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",

note = "Funding Information: We would like to particularly thank, Dr Dominique Hu-bert (Paris), Dr Dominique Grenet (Suresnes), Dr Laurence Bassinet (Cr{\'e}teil), Dr Vincent Izard (Clamart), Dr Jean-Claude Soufir (Paris) and Dr Jean-Marc Rigot (Lille) for their excellent assistance with the diagnostic algorithms and Drs Peter Durie and Tanja Gonska (Toronto) for stimulating discussions. This work was supported by the European Union Sixth Framework Programme (contract no. LSHM-CT-2005-018932, EuroCareCF) and the Czech Ministry of Health (MZ0FNM2005 to Milan Macek Jr).",

year = "2011",

month = jul,

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

language = "אנגלית",

volume = "10",

pages = "S86--S102",

journal = "Journal of Cystic Fibrosis",

issn = "1569-1993",

publisher = "Elsevier",

number = "SUPPL. 2",

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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, pp. S86-S102. https://doi.org/10.1016/S1569-1993(11)60014-3

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.

N1 - Funding Information: We would like to particularly thank, Dr Dominique Hu-bert (Paris), Dr Dominique Grenet (Suresnes), Dr Laurence Bassinet (Créteil), Dr Vincent Izard (Clamart), Dr Jean-Claude Soufir (Paris) and Dr Jean-Marc Rigot (Lille) for their excellent assistance with the diagnostic algorithms and Drs Peter Durie and Tanja Gonska (Toronto) for stimulating discussions. This work was supported by the European Union Sixth Framework Programme (contract no. LSHM-CT-2005-018932, EuroCareCF) and the Czech Ministry of Health (MZ0FNM2005 to Milan Macek Jr).

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

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U2 - 10.1016/S1569-1993(11)60014-3

DO - 10.1016/S1569-1993(11)60014-3

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AN - SCOPUS:79958122789

SN - 1569-1993

VL - 10

SP - S86-S102

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

IS - SUPPL. 2

ER -

Recommendations for the classification of diseases as CFTR-related disorders

Abstract

Bibliographical note

Keywords

UN SDGs

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