Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment

Detalhes bibliográficos
Autor(a) principal: Sousa, Rodrigo
Data de Publicação: 2018
Outros Autores: Constant, Carolina, Bandeira, Teresa, Pereira, Luísa
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
DOI: 10.25754/pjp.2018.13575
Texto Completo: https://doi.org/10.25754/pjp.2018.13575
Resumo: Primary ciliary dyskinesia is a rare genetic disease caused by defects in the beating pattern and in the structure of cilia, resulting in chronic respiratory and otorhinolaryngologic disease in both children and adults. The diagnosis is complex and has recently been reviewed by different groups. It is reached through a panel of screening and diagnosis that includes nasal nitric oxide measurement, ciliary structure analysis with electron microscopy, ciliary beat analysis with high speed videomicroscopy, and genetic testing. There is no specific treatment and the standards of care are based on the management of patients with bronchiectasis. Due to its complexity and multidisciplinarity, this condition should be managed by experienced specialized centres. For these reasons, the authors believe it to be pertinent to review the current evidence and the international guidelines regarding diagnosis, follow-up and treatment of patients with primary ciliary dyskinesia.
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spelling Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and TreatmentReview articlesPrimary ciliary dyskinesia is a rare genetic disease caused by defects in the beating pattern and in the structure of cilia, resulting in chronic respiratory and otorhinolaryngologic disease in both children and adults. The diagnosis is complex and has recently been reviewed by different groups. It is reached through a panel of screening and diagnosis that includes nasal nitric oxide measurement, ciliary structure analysis with electron microscopy, ciliary beat analysis with high speed videomicroscopy, and genetic testing. There is no specific treatment and the standards of care are based on the management of patients with bronchiectasis. Due to its complexity and multidisciplinarity, this condition should be managed by experienced specialized centres. For these reasons, the authors believe it to be pertinent to review the current evidence and the international guidelines regarding diagnosis, follow-up and treatment of patients with primary ciliary dyskinesia.Sociedade Portuguesa de Pediatria2018-11-06info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2018.13575por2184-44532184-3333Sousa, RodrigoConstant, CarolinaBandeira, TeresaPereira, Luísainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-05-06T15:12:08Zoai:ojs.revistas.rcaap.pt:article/13575Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-06T15:12:08Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
title Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
spellingShingle Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
Sousa, Rodrigo
Review articles
Sousa, Rodrigo
Review articles
title_short Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
title_full Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
title_fullStr Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
title_full_unstemmed Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
title_sort Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment
author Sousa, Rodrigo
author_facet Sousa, Rodrigo
Sousa, Rodrigo
Constant, Carolina
Bandeira, Teresa
Pereira, Luísa
Constant, Carolina
Bandeira, Teresa
Pereira, Luísa
author_role author
author2 Constant, Carolina
Bandeira, Teresa
Pereira, Luísa
author2_role author
author
author
dc.contributor.author.fl_str_mv Sousa, Rodrigo
Constant, Carolina
Bandeira, Teresa
Pereira, Luísa
dc.subject.por.fl_str_mv Review articles
topic Review articles
description Primary ciliary dyskinesia is a rare genetic disease caused by defects in the beating pattern and in the structure of cilia, resulting in chronic respiratory and otorhinolaryngologic disease in both children and adults. The diagnosis is complex and has recently been reviewed by different groups. It is reached through a panel of screening and diagnosis that includes nasal nitric oxide measurement, ciliary structure analysis with electron microscopy, ciliary beat analysis with high speed videomicroscopy, and genetic testing. There is no specific treatment and the standards of care are based on the management of patients with bronchiectasis. Due to its complexity and multidisciplinarity, this condition should be managed by experienced specialized centres. For these reasons, the authors believe it to be pertinent to review the current evidence and the international guidelines regarding diagnosis, follow-up and treatment of patients with primary ciliary dyskinesia.
publishDate 2018
dc.date.none.fl_str_mv 2018-11-06
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25754/pjp.2018.13575
url https://doi.org/10.25754/pjp.2018.13575
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv 2184-4453
2184-3333
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv mluisa.alvim@gmail.com
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dc.identifier.doi.none.fl_str_mv 10.25754/pjp.2018.13575

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