ミヨシ　アヅサ   三好　梓    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	症例報告
言語種別	英語
査読の有無	査読なし
表題	A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.
掲載誌名	正式名：Internal medicine (Tokyo, Japan) 略　 称：Intern Med ISSNコード：(1349-7235)0918-2918(Linking)
掲載区分	国内
巻・号・頁	58(16),pp.2383-2386
著者・共著者	ORIMO Mami†, KONDO Mitsuko, TAKEYAMA Kiyoshi, ABE Kazuhiro, MIYOSHI Azusa, HONDA Nahoko, ICHIKAWA Asuka, TAKEUCHI Kazuhiko, TAGAYA Etsuko
発行年月	2019/08
概要	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