|
有村 健
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
|
| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfibers. |
| Journal | Formal name：Respirology case reports Abbreviation：Respirol Case Rep ISSN code：(2051-3380)2051-3380(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 4(2),pp.e00150 |
| Author and coauthor | ORIMO Keisuke†, KONDO Mitsuko, ARIMURA Ken, TAKEYAMA Kiyoshi, TAKEUCHI Kazuhiko, TAMAOKI Jun |
| Publication date | 2016/04 |
| Summary | 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 |