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KONDO Mitsuko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor (Fixed Term) |
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| Article types | Case report |
| Language | English |
| Peer review | Non peer reviewed |
| Title | A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations. |
| Journal | Formal name：Internal medicine (Tokyo, Japan) Abbreviation：Intern Med ISSN code：(1349-7235)0918-2918(Linking) |
| Domestic / Foregin | Domestic |
| Volume, Issue, Page | 58(16),pp.2383-2386 |
| Author and coauthor | ORIMO Mami†, KONDO Mitsuko, TAKEYAMA Kiyoshi, ABE Kazuhiro, MIYOSHI Azusa, HONDA Nahoko, ICHIKAWA Asuka, TAKEUCHI Kazuhiko, TAGAYA Etsuko |
| Publication date | 2019/08 |
| Summary | A 33-year-old woman presented with a productive cough from childhood. She had suffered from repeated bacterial pneumonia. Her clinical and imaging findings revealed chronic sinusitis, bronchiectasis and situs inversus. We suspected primary ciliary dyskinesia (PCD) and performed a bronchial mucosal biopsy. The ciliary beat pattern according to high-speed video microscopy was complete loss. Electron microscopic findings of cilia showed defect of outer dynein arm (ODA). A genetic examination detected compound heterozygous mutations of DNAH5 that encode ODA components. There are few reports of genetic mutation analyses in Japanese PCD patients. We herein report a PCD patient with DNAH5 mutations and review the related literature. |
| DOI | 10.2169/internalmedicine.1961-18 |
| PMID | 31118369 |