ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

ECFS Diagnostic Network Working Group; N J Simmonds; K W Southern; Elke De Wachter; K De Boeck; F Bodewes; J G Mainz; P G Middleton; C Schwarz; V Vloeberghs; M Wilschanski; E Bourrat; J D Chalmers; C Y Ooi; D Debray; D G Downey; P Eschenhagen; E Girodon; G Hickman; A Koitschev; D Nazareth; J A Nick; D Peckham; D VanDevanter; C Raynal; I Scheers; M D Waller; I Sermet-Gaudelus; C Castellani

doi:10.1016/j.jcf.2024.03.008

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

ECFS Diagnostic Network Working Group, N J Simmonds, K W Southern, Elke De Wachter, K De Boeck, F Bodewes, J G Mainz, P G Middleton, C Schwarz, V Vloeberghs, M Wilschanski, E Bourrat, J D Chalmers, C Y Ooi, D Debray, D G Downey, P Eschenhagen, E Girodon, G Hickman, A KoitschevD Nazareth, J A Nick, D Peckham, D VanDevanter, C Raynal, I Scheers, M D Waller, I Sermet-Gaudelus, C Castellani

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14 Citations (Scopus)

Abstract

This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.

Original language	English
Pages (from-to)	590-602
Number of pages	13
Journal	Journal of Cystic Fibrosis
Volume	23
Issue number	4
DOIs	https://doi.org/10.1016/j.jcf.2024.03.008
Publication status	Published - Jul 2024

Bibliographical note

Keywords

Humans
Male
Aspergillosis, Allergic Bronchopulmonary/diagnosis
Bronchiectasis/diagnosis
Cystic Fibrosis/therapy
Cystic Fibrosis Transmembrane Conductance Regulator/genetics
Male Urogenital Diseases/diagnosis
Pancreatitis/therapy
Standard of Care
Vas Deferens/abnormalities

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ECFS Diagnostic Network Working Group, Simmonds, N. J., Southern, K. W., De Wachter, E., De Boeck, K., Bodewes, F., Mainz, J. G., Middleton, P. G., Schwarz, C., Vloeberghs, V., Wilschanski, M., Bourrat, E., Chalmers, J. D., Ooi, C. Y., Debray, D., Downey, D. G., Eschenhagen, P., Girodon, E., Hickman, G., ... Castellani, C. (2024). ECFS standards of care on CFTR-related disorders: Identification and care of the disorders. Journal of Cystic Fibrosis, 23(4), 590-602. https://doi.org/10.1016/j.jcf.2024.03.008

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abstract = "This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.",

keywords = "Humans, Male, Aspergillosis, Allergic Bronchopulmonary/diagnosis, Bronchiectasis/diagnosis, Cystic Fibrosis/therapy, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Male Urogenital Diseases/diagnosis, Pancreatitis/therapy, Standard of Care, Vas Deferens/abnormalities",

author = "{ECFS Diagnostic Network Working Group} and Simmonds, {N J} and Southern, {K W} and {De Wachter}, Elke and {De Boeck}, K and F Bodewes and Mainz, {J G} and Middleton, {P G} and C Schwarz and V Vloeberghs and M Wilschanski and E Bourrat and Chalmers, {J D} and Ooi, {C Y} and D Debray and Downey, {D G} and P Eschenhagen and E Girodon and G Hickman and A Koitschev and D Nazareth and Nick, {J A} and D Peckham and D VanDevanter and C Raynal and I Scheers and Waller, {M D} and I Sermet-Gaudelus and C Castellani",

note = "Copyright {\textcopyright} 2024. Published by Elsevier B.V.",

year = "2024",

month = jul,

doi = "10.1016/j.jcf.2024.03.008",

language = "English",

volume = "23",

pages = "590--602",

journal = "Journal of Cystic Fibrosis",

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ECFS Diagnostic Network Working Group, Simmonds, NJ, Southern, KW, De Wachter, E, De Boeck, K, Bodewes, F, Mainz, JG, Middleton, PG, Schwarz, C, Vloeberghs, V, Wilschanski, M, Bourrat, E, Chalmers, JD, Ooi, CY, Debray, D, Downey, DG, Eschenhagen, P, Girodon, E, Hickman, G, Koitschev, A, Nazareth, D, Nick, JA, Peckham, D, VanDevanter, D, Raynal, C, Scheers, I, Waller, MD, Sermet-Gaudelus, I & Castellani, C 2024, 'ECFS standards of care on CFTR-related disorders: Identification and care of the disorders', Journal of Cystic Fibrosis, vol. 23, no. 4, pp. 590-602. https://doi.org/10.1016/j.jcf.2024.03.008

TY - JOUR

T1 - ECFS standards of care on CFTR-related disorders

T2 - Identification and care of the disorders

AU - ECFS Diagnostic Network Working Group

AU - Simmonds, N J

AU - Southern, K W

AU - De Wachter, Elke

AU - De Boeck, K

AU - Bodewes, F

AU - Mainz, J G

AU - Middleton, P G

AU - Schwarz, C

AU - Vloeberghs, V

AU - Wilschanski, M

AU - Bourrat, E

AU - Chalmers, J D

AU - Ooi, C Y

AU - Debray, D

AU - Downey, D G

AU - Eschenhagen, P

AU - Girodon, E

AU - Hickman, G

AU - Koitschev, A

AU - Nazareth, D

AU - Nick, J A

AU - Peckham, D

AU - VanDevanter, D

AU - Raynal, C

AU - Scheers, I

AU - Waller, M D

AU - Sermet-Gaudelus, I

AU - Castellani, C

PY - 2024/7

Y1 - 2024/7

N2 - This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.

AB - This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.

KW - Humans

KW - Male

KW - Aspergillosis, Allergic Bronchopulmonary/diagnosis

KW - Bronchiectasis/diagnosis

KW - Cystic Fibrosis/therapy

KW - Cystic Fibrosis Transmembrane Conductance Regulator/genetics

KW - Male Urogenital Diseases/diagnosis

KW - Pancreatitis/therapy

KW - Standard of Care

KW - Vas Deferens/abnormalities

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U2 - 10.1016/j.jcf.2024.03.008

DO - 10.1016/j.jcf.2024.03.008

M3 - Article

C2 - 38508949

SN - 1569-1993

VL - 23

SP - 590

EP - 602

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

IS - 4

ER -

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

Abstract

Bibliographical note

Keywords

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