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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 | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations. |
| Journal | Formal name：Respiratory investigation Abbreviation：Respir Investig ISSN code：22125353/22125345 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 59(4),pp.550-554 |
| Author and coauthor | Kurokawa Atsushi†, Kondo Mitsuko, Orimo Mami, Honda Nahoko, Miyoshi Azusa, Akaba Tomohiro, Tsuji Mayoko, Nakatani Kaname, Ikejiri Makoto, Yagi Osamitsu, Takeyama Kiyoshi, Takeuchi Kazuhiko, Tagaya Etsuko |
| Publication date | 2021/07 |
| Summary | Multifaceted analysis is recommended for the diagnosis of primary ciliary dyskinesia (PCD). A 31-year-old woman had situs inversus, bronchiectasis, family history of PCD, and compound heterozygous mutations in DNAH5. Her cilia were immotile. Defects in the outer dynein arms were revealed by transmission electron microscopy and loss of DNAH5 proteins in the entire length of axonemes using immunofluorescence (IF). A 17-year-old boy had bronchiectasis and heterozygous mutations in DNAH11. His cilia were motile with normal ultrastructure. The loss of DNAH11 proteins at the proximal region of cilia was revealed by IF. IF could be useful to support PCD diagnosis. |
| DOI | 10.1016/j.resinv.2021.01.001 |
| PMID | 33589394 |