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Cystic fibrosis in Iceland and the high prevalence of the N1303K variant

Elidottir, Helga LU orcid ; Bjarnadottir, Selma R. ; Baldursson, Olafur and Jonsdottir, Brynja LU (2024) In Pediatric Pulmonology
Abstract

Background: Cystic fibrosis (CF) is most common in populations of Northern European ancestry where the F508del variant predominates. In 2020, Iceland became a member of the European Cystic Fibrosis Society Patient Registry, and we launched an epidemiological study of CF in Iceland. The study aimed to determine the prevalence and the genetic variants present in the country. Furthermore, we aimed to describe the previous and the current situation regarding lung function, infections, complications, treatment, and follow-up to understand the strengths and weaknesses of CF care in Iceland. Methods: This retrospective study included all individuals in Iceland with a confirmed CF diagnosis between 1955 and 2021. We conducted a medical records... (More)

Background: Cystic fibrosis (CF) is most common in populations of Northern European ancestry where the F508del variant predominates. In 2020, Iceland became a member of the European Cystic Fibrosis Society Patient Registry, and we launched an epidemiological study of CF in Iceland. The study aimed to determine the prevalence and the genetic variants present in the country. Furthermore, we aimed to describe the previous and the current situation regarding lung function, infections, complications, treatment, and follow-up to understand the strengths and weaknesses of CF care in Iceland. Methods: This retrospective study included all individuals in Iceland with a confirmed CF diagnosis between 1955 and 2021. We conducted a medical records search for CF diagnosis codes and found 30 people with CF who were included in the study. Two hundred sixteen clinical variables were registered. A descriptive analysis of these was performed. Results: The prevalence of CF in Iceland is 0.372:10,000 inhabitants. The F508del is the most common CF transmembrane conductance regulator (CFTR) variant (46.4%), closely followed by N1303K (44.6%). Staphylococcus aureus was the most common airway pathogen, followed by Pseudomonas aeruginosa. Nasal polyps and CF-related diabetes were the most common complications. Modern CF medications, including the recent CFTR modulators, are available. Conclusion: Even though Iceland has a relatively low prevalence of CF, it holds the highest known prevalence of the N1303K variant in Europe. Access to necessary treatment is satisfactory, but improvements are advisable for some aspects of the routine assessments by best practice guidelines.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
CFTR gene variants, cystic fibrosis epidemiology, cystic fibrosis incidence, cystic fibrosis prevalence, N1303K gene variant
in
Pediatric Pulmonology
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:38629430
  • scopus:85190969595
ISSN
8755-6863
DOI
10.1002/ppul.27019
language
English
LU publication?
yes
id
c1fede5f-408e-4bde-a6b8-190ebc339d27
date added to LUP
2024-05-08 10:55:28
date last changed
2024-05-22 12:52:24
@article{c1fede5f-408e-4bde-a6b8-190ebc339d27,
  abstract     = {{<p>Background: Cystic fibrosis (CF) is most common in populations of Northern European ancestry where the F508del variant predominates. In 2020, Iceland became a member of the European Cystic Fibrosis Society Patient Registry, and we launched an epidemiological study of CF in Iceland. The study aimed to determine the prevalence and the genetic variants present in the country. Furthermore, we aimed to describe the previous and the current situation regarding lung function, infections, complications, treatment, and follow-up to understand the strengths and weaknesses of CF care in Iceland. Methods: This retrospective study included all individuals in Iceland with a confirmed CF diagnosis between 1955 and 2021. We conducted a medical records search for CF diagnosis codes and found 30 people with CF who were included in the study. Two hundred sixteen clinical variables were registered. A descriptive analysis of these was performed. Results: The prevalence of CF in Iceland is 0.372:10,000 inhabitants. The F508del is the most common CF transmembrane conductance regulator (CFTR) variant (46.4%), closely followed by N1303K (44.6%). Staphylococcus aureus was the most common airway pathogen, followed by Pseudomonas aeruginosa. Nasal polyps and CF-related diabetes were the most common complications. Modern CF medications, including the recent CFTR modulators, are available. Conclusion: Even though Iceland has a relatively low prevalence of CF, it holds the highest known prevalence of the N1303K variant in Europe. Access to necessary treatment is satisfactory, but improvements are advisable for some aspects of the routine assessments by best practice guidelines.</p>}},
  author       = {{Elidottir, Helga and Bjarnadottir, Selma R. and Baldursson, Olafur and Jonsdottir, Brynja}},
  issn         = {{8755-6863}},
  keywords     = {{CFTR gene variants; cystic fibrosis epidemiology; cystic fibrosis incidence; cystic fibrosis prevalence; N1303K gene variant}},
  language     = {{eng}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Pediatric Pulmonology}},
  title        = {{Cystic fibrosis in Iceland and the high prevalence of the N1303K variant}},
  url          = {{http://dx.doi.org/10.1002/ppul.27019}},
  doi          = {{10.1002/ppul.27019}},
  year         = {{2024}},
}