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Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis

Patient: Male, 49-year-old Final Diagnosis: Situs inversus Symptoms: Cough • nasal congestion • nasal obstruction Medication:— Clinical Procedure: — Specialty: Otolaryngology OBJECTIVE: Rare disease BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disease associated with abnormalities...

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Autores principales: Suzaki, Isao, Hirano, Kojiro, Arai, Sawa, Maruyama, Yuki, Mizuyoshi, Tomomi, Tokudome, Takatoshi, Fujii, Naokazu, Kobayashi, Hitome
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483516/
https://www.ncbi.nlm.nih.gov/pubmed/32862191
http://dx.doi.org/10.12659/AJCR.923270
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author Suzaki, Isao
Hirano, Kojiro
Arai, Sawa
Maruyama, Yuki
Mizuyoshi, Tomomi
Tokudome, Takatoshi
Fujii, Naokazu
Kobayashi, Hitome
author_facet Suzaki, Isao
Hirano, Kojiro
Arai, Sawa
Maruyama, Yuki
Mizuyoshi, Tomomi
Tokudome, Takatoshi
Fujii, Naokazu
Kobayashi, Hitome
author_sort Suzaki, Isao
collection PubMed
description Patient: Male, 49-year-old Final Diagnosis: Situs inversus Symptoms: Cough • nasal congestion • nasal obstruction Medication:— Clinical Procedure: — Specialty: Otolaryngology OBJECTIVE: Rare disease BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disease associated with abnormalities in the structure and function of cilia. The common clinical presentation of PCD is characterized by otitis media, chronic rhinosinusitis (CRS), chronic bronchitis, and infertility due to impaired ciliary motility. PCD is a complex disease and its diagnosis is complicated. However, there are some clinical features that are strong indicators of PCD, namely situs inversus, chronic otitis media, CRS, and chronic bronchitis with wet cough. CASE REPORT: A 49-year-old male who had already received 3 operations for refractory CRS presented with nasal discharge, post nasal discharge, and chronic wet cough. Since childhood, he had suffered from otitis media, rhinosinusitis, and bronchitis. He also had a family history of CRS. He was diagnosed as having male infertility at another hospital, but the details were unknown. We performed a fourth surgery and obtained the nasal mucosa for electron microscope analysis during the operation. The transmission electron microscopic findings of the nasal cilia revealed several abnormalities in structure including a central complex defect, microtubular disorganization, and an inner dynein arm defect. Based on these findings and clinical courses, we made the definitive diagnosis of PCD. CONCLUSIONS: When faced with refractory CRS cases with characteristic clinical symptoms that are associated with otitis media, chronic bronchitis, and infertility, clinicians should consider the possibility of PCD.
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spelling pubmed-74835162020-09-18 Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis Suzaki, Isao Hirano, Kojiro Arai, Sawa Maruyama, Yuki Mizuyoshi, Tomomi Tokudome, Takatoshi Fujii, Naokazu Kobayashi, Hitome Am J Case Rep Articles Patient: Male, 49-year-old Final Diagnosis: Situs inversus Symptoms: Cough • nasal congestion • nasal obstruction Medication:— Clinical Procedure: — Specialty: Otolaryngology OBJECTIVE: Rare disease BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disease associated with abnormalities in the structure and function of cilia. The common clinical presentation of PCD is characterized by otitis media, chronic rhinosinusitis (CRS), chronic bronchitis, and infertility due to impaired ciliary motility. PCD is a complex disease and its diagnosis is complicated. However, there are some clinical features that are strong indicators of PCD, namely situs inversus, chronic otitis media, CRS, and chronic bronchitis with wet cough. CASE REPORT: A 49-year-old male who had already received 3 operations for refractory CRS presented with nasal discharge, post nasal discharge, and chronic wet cough. Since childhood, he had suffered from otitis media, rhinosinusitis, and bronchitis. He also had a family history of CRS. He was diagnosed as having male infertility at another hospital, but the details were unknown. We performed a fourth surgery and obtained the nasal mucosa for electron microscope analysis during the operation. The transmission electron microscopic findings of the nasal cilia revealed several abnormalities in structure including a central complex defect, microtubular disorganization, and an inner dynein arm defect. Based on these findings and clinical courses, we made the definitive diagnosis of PCD. CONCLUSIONS: When faced with refractory CRS cases with characteristic clinical symptoms that are associated with otitis media, chronic bronchitis, and infertility, clinicians should consider the possibility of PCD. International Scientific Literature, Inc. 2020-08-30 /pmc/articles/PMC7483516/ /pubmed/32862191 http://dx.doi.org/10.12659/AJCR.923270 Text en © Am J Case Rep, 2020 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
Suzaki, Isao
Hirano, Kojiro
Arai, Sawa
Maruyama, Yuki
Mizuyoshi, Tomomi
Tokudome, Takatoshi
Fujii, Naokazu
Kobayashi, Hitome
Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
title Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
title_full Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
title_fullStr Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
title_full_unstemmed Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
title_short Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
title_sort primary ciliary dyskinesia with refractory chronic rhinosinusitis
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483516/
https://www.ncbi.nlm.nih.gov/pubmed/32862191
http://dx.doi.org/10.12659/AJCR.923270
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