| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2026-02-03 |
| タイトル |
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|
タイトル |
Clinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1–4 of DRC1: A multicenter retrospective cohort study |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Primary ciliary dyskinesia |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Bronchiectasis |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
DRC1 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
DNAH5 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
PICADAR |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Ito, Masashi
Nakano, Atsuko
Arimoto, Yukiko
Kondo, Mitsuko
Matsuda, Yusuke
Abo, Miki
Kido, Takashi
Morishita, Masashi
Honma, Takeshige
Nishimori, Hisashi
Inoue, Yuzaburo
Iwamoto, Keisuke
Hashida, Yuichiro
Takeuchi, Kazuhiko
Akiko, Miyabayashi
Wakabayashi, Keiko
Yamada, Hiroyuki
Hijikata, Minako
Keicho, Naoto
Morimoto, Kozo
|
| 抄録 |
|
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内容記述タイプ |
Abstract |
|
内容記述 |
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. |
|
言語 |
en |
| 書誌情報 |
en : Respiratory Investigation
巻 64,
号 2,
p. art. no. 101376,
発行日 2026-01-21
|
| 出版者 |
|
|
出版者 |
Elsevier B.V. |
|
言語 |
en |
| ISSN |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
22125345 |
| DOI |
|
|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1016/j.resinv.2026.101376 |
| 権利 |
|
|
権利情報 |
© 2026 The Japanese Respiratory Society. Published by Elsevier B.V.This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/. |
|
言語 |
en |
| 著者版フラグ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 引用 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
Respiratory Investigation, 64(2), art. no. 101376; 2026 |
|
言語 |
en |
RI64_101376.pdf (1 MB)
