A CASE OF PRIMARY CILIARY DYSKINESIA WHO HAD BEEN TREATED AS ASTHMA
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- Hosoki Koa
- Department of Pediatrics, Mie National Hospital
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- Fujisawa Takao
- Department of Pediatrics, Mie National Hospital
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- Masuda Sawako
- Department of Otolaryngology, Mie National Hospital
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- Usui Satoko
- Department of Otolaryngology, Mie National Hospital
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- Ito Hiroaki
- Department of Pediatrics, Mie National Hospital
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- Nagao Mizuho
- Department of Pediatrics, Mie National Hospital
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- Terada Akihiko
- Department of Pediatrics, Mie National Hospital:Department of Pediatrics, Daido Hospital
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- Iguchi Kousei
- Department of Pediatrics, Mie National Hospital
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- Ogawa Satoru
- Electron Microscopy Research Center, Mie University
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- Nakatani Kaname
- Division of Personalized Medicine, Mie University Graduate School of Medicine
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- Takeuchi Kazuhiko
- Department of Otolaryngology, Mie University Graduate School of Medicine
Bibliographic Information
- Other Title
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- 喘息の診断を受けていた原発性線毛運動不全症の1例
- 症例報告 喘息の診断を受けていた原発性線毛運動不全症の1例
- ショウレイ ホウコク ゼンソク ノ シンダン オ ウケテ イタ ゲンパツセイセンモウ ウンドウ フゼンショウ ノ 1レイ
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Abstract
We report a case of 18-old girl with primary ciliary dyskinesia (PCD) who had been diagnosed as asthma. Since birth, she had presented with unexplained productive cough, sputum, rhinorrhea, and stridor with situs solitus. Her familial history was negative for PCD. At 2 years of age, ciliary beat frequency and beat pattern were normal. She was diagnosed as rhinosinusitis, chronic secretory otitis media. At 3 years of age, she was diagnosed as asthma because of wheezing not associated with respiratory infection. Various asthma medications were then administered, including DSCG, inhaled corticosteroids, and salmeterol, but varying responses to the treatment were noted. Spirometry revealed persistent severe small airway obstruction. Beta2 agonist reversibility was recognized by impulse oscillation system, not with FEV1. At age of 18, chest CT disclosed bronchiectasis, and nasal nitric oxide concentration was very low, 98ppb and a diagnostic approach for PCD was performed. Electron microscopic analysis of nasal cilia demonstrated defects of the outer and inner dynein arms, and the diagnosis of PCD was made. Mutations in DNAH1 and DNAI1 genes were found. The diagnosis of PCD is often difficult in the absence of situs inversus totalis. Recurrent wheeze with chronic rhinosinusitis, chronic otitis media, and brochiectasis may warrant detailed investigations for PCD, especially with nasal NO measurement.
Journal
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- Japanese Journal of Allergology
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Japanese Journal of Allergology 59 (7), 847-854, 2010
Japanese Society of Allergology
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Details 詳細情報について
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- CRID
- 1390001204992075904
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- NII Article ID
- 110007681758
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- NII Book ID
- AN00012583
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- ISSN
- 13477935
- 00214884
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- NDL BIB ID
- 10804522
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- CiNii Articles
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- Abstract License Flag
- Disallowed