|
コンドウ ミツコ
KONDOU Mitsuko
近藤 光子 所属 医学部 医学科（東京女子医科大学病院） 職種 非常勤嘱託 |
|
| 論文種別 | 原著 |
| 言語種別 | 英語 |
| 査読の有無 | 査読なし |
| 表題 | Clinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study. |
| 掲載誌名 | 正式名：Respiratory investigation 略 称：Respir Investig ISSNコード：22125353/22125345 |
| 掲載区分 | 国外 |
| 巻・号・頁 | 64(2),pp.101376 |
| 著者・共著者 | Masashi Ito, Atsuko Nakano, Yukiko Arimoto, Mitsuko Kondo, Yusuke Matsuda, Miki Abo, Takashi Kido, Masashi Morishita, Takeshige Honma, Hisashi Nishimori, Yuzaburo Inoue, Keisuke Iwamoto, Yuichiro Hashida, Kazuhiko Takeuchi, Akiko Miyabayashi, Keiko Wakabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho, Kozo Morimoto |
| 発行年月 | 2026/03 |
| 概要 | BACKGROUND:Approximately half of primary ciliary dyskinesia (PCD) patients in Japan carry a large homozygous deletion encompassing exons 1-4 of DRC1 gene. However, the clinical manifestations of PCD patients with DRC1 variants remain poorly characterized.METHODS:We conducted a multicenter retrospective cohort study at 12 hospitals across Japan. Patients with DRC1 variants were included, and their clinical characteristics, disease severity, and radiological features were compared with those of patients with outer dynein arm (ODA) defects.RESULTS:A total of 43 patients with DRC1 variants and 21 with ODA defects were included. The median age at PCD diagnosis was 27 years (IQR: 17-41) for patients with DRC1 variants and 26 years (IQR: 8-31) for those with ODA defects. The median PICADAR score was significantly lower in patients with DRC1 variants than those with ODA defects (4 vs. 8, p < 0.001). The radiological severity and distribution of bronchiectasis did not differ between the two groups, while the median mucous plugging score (bronchiolitis/tree-in-bud) was significantly higher in patients with DRC1 variants (5, IQR: 4-6 vs. 3, IQR: 2-4, p = 0.044). In patients with DRC1 variants, the FEV1 z score was negatively correlated with age (r = -0.37, p = 0.028), and the modified Reiff score was positively correlated with age (r = 0.47, p = 0.010).CONCLUSIONS:Although the sensitivity of the PICADAR score was low in these patients, most clinical and radiological features of DRC1-related PCD were relatively typical of PCD. Given that DRC1-related PCD appears to worsen with age, early diagnosis and timely intervention are crucial. |
| DOI | 10.1016/j.resinv.2026.101376 |
| PMID | 41570615 |