アリムラ　ケン   ARIMURA Ken   有村　健    所属   医学部 医学科（東京女子医科大学病院）    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfibers.
掲載誌名	正式名：Respirology case reports 略　 称：Respirol Case Rep ISSNコード：(2051-3380)2051-3380(Linking)
掲載区分	国外
巻・号・頁	4(2),pp.e00150
著者・共著者	ORIMO Keisuke†, KONDO Mitsuko, ARIMURA Ken, TAKEYAMA Kiyoshi, TAKEUCHI Kazuhiko, TAMAOKI Jun
発行年月	2016/04
概要	A 25-year-old Japanese woman suffered from repeated respiratory tract infections. Because of her characteristic medical history and imaging findings, we suspected primary ciliary dyskinesia (PCD) and performed a transbronchial biopsy. The biopsy revealed complex abnormalities of the ciliary structure including cleavage of the B-subfibers observed by transmission electron microscopy analysis and the complete loss of ciliary motion by video analysis. Genetic examinations to diagnose PCD have progressed in recent years. However, in this case, the well-known genetic mutations in causal genes of PCD were not detected via whole-exome sequencing of the blood. Cleavage of the B-subfibers in patients with PCD has never been reported. This case appears to be the first report of this PCD subtype in humans.
DOI	10.1002/rcr2.150
PMID	27081490