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Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic

Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, maki...

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Autores principales: Tinoco, Eduarda Milheiro, Gigante, Ana Rita, Ferreira, Edite, Sanches, Inês, Pereira, Rute, Sá, Rosália, Monteiro, Regina, Sousa, Mário, Pascoal, Ivone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048503/
https://www.ncbi.nlm.nih.gov/pubmed/36980814
http://dx.doi.org/10.3390/genes14030541
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author Tinoco, Eduarda Milheiro
Gigante, Ana Rita
Ferreira, Edite
Sanches, Inês
Pereira, Rute
Sá, Rosália
Monteiro, Regina
Sousa, Mário
Pascoal, Ivone
author_facet Tinoco, Eduarda Milheiro
Gigante, Ana Rita
Ferreira, Edite
Sanches, Inês
Pereira, Rute
Sá, Rosália
Monteiro, Regina
Sousa, Mário
Pascoal, Ivone
author_sort Tinoco, Eduarda Milheiro
collection PubMed
description Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.
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spelling pubmed-100485032023-03-29 Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic Tinoco, Eduarda Milheiro Gigante, Ana Rita Ferreira, Edite Sanches, Inês Pereira, Rute Sá, Rosália Monteiro, Regina Sousa, Mário Pascoal, Ivone Genes (Basel) Brief Report Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders. MDPI 2023-02-21 /pmc/articles/PMC10048503/ /pubmed/36980814 http://dx.doi.org/10.3390/genes14030541 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Tinoco, Eduarda Milheiro
Gigante, Ana Rita
Ferreira, Edite
Sanches, Inês
Pereira, Rute
Sá, Rosália
Monteiro, Regina
Sousa, Mário
Pascoal, Ivone
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
title Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
title_full Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
title_fullStr Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
title_full_unstemmed Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
title_short Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
title_sort primary ciliary dyskinesia in a portuguese bronchiectasis outpatient clinic
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048503/
https://www.ncbi.nlm.nih.gov/pubmed/36980814
http://dx.doi.org/10.3390/genes14030541
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