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Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria

https://asahikawa-med.repo.nii.ac.jp/records/2000528
https://asahikawa-med.repo.nii.ac.jp/records/2000528
e0bb0146-29f6-4f72-afb4-6fc35557685f
名前 / ファイル ライセンス アクション
35782605.pdf 35782605.pdf (1.3 MB)
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Item type 学術雑誌論文 / Journal Article_02(1)
公開日 2025-06-18
タイトル
タイトル Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria
言語 en
言語
言語 eng
キーワード
主題Scheme Other
キーワード Fabry disease
キーワード
主題Scheme Other
キーワード Renal pathology
キーワード
主題Scheme Other
キーワード Urinary mulberry cells
資源タイプ
資源タイプ journal article
アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
著者 Natsuo, Yamada

× Natsuo, Yamada

en Natsuo, Yamada

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Hirofumi, Sakuma

× Hirofumi, Sakuma

en Hirofumi, Sakuma

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Mitsuru, Yanai

× Mitsuru, Yanai

en Mitsuru, Yanai

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Ayana, Suzuki

× Ayana, Suzuki

en Ayana, Suzuki

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Keisuke, Maruyama

× Keisuke, Maruyama

en Keisuke, Maruyama

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Motoki, Matsuki

× Motoki, Matsuki

en Motoki, Matsuki

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Naoki, Nakagawa

× Naoki, Nakagawa

en Naoki, Nakagawa

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bibliographic_information en : Molecular genetics and metabolism reports.

巻 31, p. 100874, 発行日 2022-04-22
ISSN
収録物識別子タイプ EISSN
収録物識別子 2214-4269
DOI
関連タイプ isIdenticalTo
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.ymgmr.2022.100874
リンクURL
内容記述タイプ Other
内容記述 https://www.sciencedirect.com/science/article/pii/S2214426922000349
言語 en
item_1716186501932
関連タイプ isIdenticalTo
識別子タイプ PMID
関連識別子 35782605
item_5_description_33
内容記述タイプ Abstract
内容記述 We describe the cases of 47- and 45-year-old sisters who were diagnosed with Fabry disease by genomic analysis. Although the only abnormal finding was the presence of mulberry cells in their urinary sediment, the renal pathological scores, which were evaluated by light and electron microscopy, were unexpectedly very high due to severe accumulation of globotriaosylceramide in the glomerular podocytes and tubular epithelial cells. Nephrologists and laboratory technicians should recognize the importance of screening for mulberry cells during urinalysis as this is a simple, inexpensive, and non-invasive method for early diagnosis, leading to early treatment of Fabry disease.
言語 en
注記
内容記述タイプ Other
注記 ©2022. This manuscript version is made available under the CC-BY 4.0 license
https://creativecommons.org/licenses/by/4.0/
言語 en
出版タイプ
出版タイプ VoR
item_5_textarea_42
en
© 2022 The Authors.
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Cite as

Natsuo, Yamada, Hirofumi, Sakuma, Mitsuru, Yanai, Ayana, Suzuki, Keisuke, Maruyama, Motoki, Matsuki, Naoki, Nakagawa, n.d., Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria: 100874– p.

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