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Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation
Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all V...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314105/ https://www.ncbi.nlm.nih.gov/pubmed/35343062 http://dx.doi.org/10.1002/ajmg.c.31968 |
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author | Kos, Renate Israëls, Joël van Gogh, Christine D. L. Altenburg, Josje Diepenhorst, Sandra Paff, Tamara Boon, Elles M. J. Micha, Dimitra Pals, Gerard Neerincx, Anne H. Maitland‐van der Zee, Anke H. Haarman, Eric G. |
author_facet | Kos, Renate Israëls, Joël van Gogh, Christine D. L. Altenburg, Josje Diepenhorst, Sandra Paff, Tamara Boon, Elles M. J. Micha, Dimitra Pals, Gerard Neerincx, Anne H. Maitland‐van der Zee, Anke H. Haarman, Eric G. |
author_sort | Kos, Renate |
collection | PubMed |
description | Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear‐nose‐throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty‐three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV(1) declined in children (−1.43%/year, CI: −1.80/−1.05), but not in adults (0.01%/year, CI: −0.36/0.38). Pseudomonas aeruginosa was cultured in 21% of children and 60% of adults, respectively. Patients who have been infected at some point with P. aeruginosa had a steeper decline in FEV(1) as compared to patients that have never been infected. Neonatal symptoms (79%) and ENT problems (94%) were common; fertility issues however, were not (11%) common. Compared to other PCD cohorts, the Volendam/CCDC114 patients have a moderately severe phenotype with lung function decline predominantly occurring in childhood. |
format | Online Article Text |
id | pubmed-9314105 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93141052022-07-30 Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation Kos, Renate Israëls, Joël van Gogh, Christine D. L. Altenburg, Josje Diepenhorst, Sandra Paff, Tamara Boon, Elles M. J. Micha, Dimitra Pals, Gerard Neerincx, Anne H. Maitland‐van der Zee, Anke H. Haarman, Eric G. Am J Med Genet C Semin Med Genet Research Articles Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear‐nose‐throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty‐three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV(1) declined in children (−1.43%/year, CI: −1.80/−1.05), but not in adults (0.01%/year, CI: −0.36/0.38). Pseudomonas aeruginosa was cultured in 21% of children and 60% of adults, respectively. Patients who have been infected at some point with P. aeruginosa had a steeper decline in FEV(1) as compared to patients that have never been infected. Neonatal symptoms (79%) and ENT problems (94%) were common; fertility issues however, were not (11%) common. Compared to other PCD cohorts, the Volendam/CCDC114 patients have a moderately severe phenotype with lung function decline predominantly occurring in childhood. John Wiley & Sons, Inc. 2022-03-27 2022-03 /pmc/articles/PMC9314105/ /pubmed/35343062 http://dx.doi.org/10.1002/ajmg.c.31968 Text en © 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Research Articles Kos, Renate Israëls, Joël van Gogh, Christine D. L. Altenburg, Josje Diepenhorst, Sandra Paff, Tamara Boon, Elles M. J. Micha, Dimitra Pals, Gerard Neerincx, Anne H. Maitland‐van der Zee, Anke H. Haarman, Eric G. Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation |
title | Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a
CCDC114
mutation |
title_full | Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a
CCDC114
mutation |
title_fullStr | Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a
CCDC114
mutation |
title_full_unstemmed | Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a
CCDC114
mutation |
title_short | Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a
CCDC114
mutation |
title_sort | primary ciliary dyskinesia in volendam: diagnostic and phenotypic features in patients with a
ccdc114
mutation |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314105/ https://www.ncbi.nlm.nih.gov/pubmed/35343062 http://dx.doi.org/10.1002/ajmg.c.31968 |
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