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CFTR-related disorder(CFTR-RD)

MedGen UID:
1854862
•Concept ID:
C5924204
•
Disease or Syndrome
Synonyms: CFTR-RD; CFTR-related condition; CFTR-related disorders
SNOMED CT: CFTR-related disorder (1335845008); CFTR (cystic fibrosis transmembrane conductance regulator) related disorder (1335845008); Cystic fibrosis transmembrane conductance regulator-related disorder (1335845008)

Professional guidelines

PubMed

Detection of disease-causing CFTR variants in state newborn screening programs.
McGarry ME, Ren CL, Wu R, Farrell PM, McColley SA
Pediatr Pulmonol 2023 Feb;58(2):465-474. Epub 2022 Oct 25 doi: 10.1002/ppul.26209. PMID: 36237137Free PMC Article
ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.
Castellani C, De Boeck K, De Wachter E, Sermet-Gaudelus I, Simmonds NJ, Southern KW; ECFS Diagnostic Network Working Group
J Cyst Fibros 2022 Nov;21(6):908-921. Epub 2022 Oct 8 doi: 10.1016/j.jcf.2022.09.011. PMID: 36220763
Refining the continuum of CFTR-associated disorders in the era of newborn screening.
Levy H, Nugent M, Schneck K, Stachiw-Hietpas D, Laxova A, Lakser O, Rock M, Dahmer MK, Biller J, Nasr SZ, Baker M, McColley SA, Simpson P, Farrell PM
Clin Genet 2016 May;89(5):539-49. Epub 2016 Jan 20 doi: 10.1111/cge.12711. PMID: 26671754Free PMC Article

Recent clinical studies

Etiology

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.
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; ECFS Diagnostic Network Working Group
J Cyst Fibros 2024 Jul;23(4):590-602. Epub 2024 Mar 19 doi: 10.1016/j.jcf.2024.03.008. PMID: 38508949
ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.
Castellani C, De Boeck K, De Wachter E, Sermet-Gaudelus I, Simmonds NJ, Southern KW; ECFS Diagnostic Network Working Group
J Cyst Fibros 2022 Nov;21(6):908-921. Epub 2022 Oct 8 doi: 10.1016/j.jcf.2022.09.011. PMID: 36220763
When CFSPID becomes CF.
Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K, Truty R, Riethmaier D, Wilkinson J, Bristow SL, Aguilar S, Neitzel D, Faulkner N, Aradhya S
Hum Mutat 2021 Sep;42(9):1165-1172. Epub 2021 Jul 10 doi: 10.1002/humu.24250. PMID: 34196078Free PMC Article
Cystic fibrosis screen positive, inconclusive diagnosis.
Barben J, Southern KW
Curr Opin Pulm Med 2016 Nov;22(6):617-22. doi: 10.1097/MCP.0000000000000314. PMID: 27583671

Diagnosis

ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.
Castellani C, De Boeck K, De Wachter E, Sermet-Gaudelus I, Simmonds NJ, Southern KW; ECFS Diagnostic Network Working Group
J Cyst Fibros 2022 Nov;21(6):908-921. Epub 2022 Oct 8 doi: 10.1016/j.jcf.2022.09.011. PMID: 36220763
When CFSPID becomes CF.
Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682
Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
Pagin A, Sermet-Gaudelus I, Burgel PR
Arch Pediatr 2020 Feb;27 Suppl 1:eS25-eS29. doi: 10.1016/S0929-693X(20)30047-6. PMID: 32172933
The diagnosis of cystic fibrosis.
De Boeck K, Vermeulen F, Dupont L
Presse Med 2017 Jun;46(6 Pt 2):e97-e108. Epub 2017 May 31 doi: 10.1016/j.lpm.2017.04.010. PMID: 28576637
Non-allergic asthma as a CFTR-related disorder.
Schulz A, Tümmler B
J Cyst Fibros 2016 Sep;15(5):641-4. Epub 2015 Oct 31 doi: 10.1016/j.jcf.2015.10.011. PMID: 26526220

Therapy

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.
Cabrol C, Bienvenu T, Ruaud L, Girodon E, Noacco G, Delobeau M, Fanian F, Richaud-Thiriez B, Van Maldergem L, Aubin F
Acta Derm Venereol 2016 Aug 23;96(6):848-9. doi: 10.2340/00015555-2424. PMID: 27026144

Prognosis

Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
Terlizzi V, Padoan R, Leonetti G, Vitullo P, Tosco A, Taccetti G, Fevola C, Ficili F, Pepe A, Poli P, Claut L, Daccò V, Salvatore D
Eur J Pediatr 2023 Dec;182(12):5275-5283. Epub 2023 Sep 19 doi: 10.1007/s00431-023-05193-9. PMID: 37725210
When CFSPID becomes CF.
Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682
The diagnosis of cystic fibrosis.
De Boeck K, Vermeulen F, Dupont L
Presse Med 2017 Jun;46(6 Pt 2):e97-e108. Epub 2017 May 31 doi: 10.1016/j.lpm.2017.04.010. PMID: 28576637
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
Bergougnoux A, Viart V, Miro J, Bommart S, Molinari N, des Georges M, Claustres M, Chiron R, Taulan-Cadars M
J Cyst Fibros 2015 Sep;14(5):646-53. Epub 2015 Mar 18 doi: 10.1016/j.jcf.2015.02.012. PMID: 25797027
The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.
Marion H, Natacha G, Brigitte M, François C, Michel R, Corinne T, Emmanuelle G, Thierry B
J Cyst Fibros 2015 May;14(3):305-9. Epub 2014 Nov 28 doi: 10.1016/j.jcf.2014.11.001. PMID: 25443471

Clinical prediction guides

Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
Terlizzi V, Padoan R, Leonetti G, Vitullo P, Tosco A, Taccetti G, Fevola C, Ficili F, Pepe A, Poli P, Claut L, Daccò V, Salvatore D
Eur J Pediatr 2023 Dec;182(12):5275-5283. Epub 2023 Sep 19 doi: 10.1007/s00431-023-05193-9. PMID: 37725210
When CFSPID becomes CF.
Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682
Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A, Audrézet MP, Raynal C, Sermet-Gaudelus I, Bienvenu T, Férec C, Bergougnoux A, Lopez M, Scotet V, Munck A, Girodon E
J Cyst Fibros 2020 Nov;19(6):949-954. Epub 2020 Apr 20 doi: 10.1016/j.jcf.2020.03.019. PMID: 32327388
Non-allergic asthma as a CFTR-related disorder.
Schulz A, Tümmler B
J Cyst Fibros 2016 Sep;15(5):641-4. Epub 2015 Oct 31 doi: 10.1016/j.jcf.2015.10.011. PMID: 26526220
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
Bergougnoux A, Viart V, Miro J, Bommart S, Molinari N, des Georges M, Claustres M, Chiron R, Taulan-Cadars M
J Cyst Fibros 2015 Sep;14(5):646-53. Epub 2015 Mar 18 doi: 10.1016/j.jcf.2015.02.012. PMID: 25797027

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