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<Review> Pathophysiology of Nephronophthisis
https://kindai.repo.nii.ac.jp/records/20149
https://kindai.repo.nii.ac.jp/records/2014911fb9e5a-cc30-4c7f-8c3d-4285cfb2c3dc
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
AA0050842X-20190600-0001.pdf (10.3 MB)
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| Item type | ☆紀要論文 / Departmental Bulletin Paper(1) | |||||||||
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| 公開日 | 2019-07-25 | |||||||||
| タイトル | ||||||||||
| タイトル | <Review> Pathophysiology of Nephronophthisis | |||||||||
| 言語 | en | |||||||||
| 著者 |
Sugimoto, Keisuke
× Sugimoto, Keisuke
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| 言語 | ||||||||||
| 言語 | eng | |||||||||
| キーワード | ||||||||||
| 主題 | Nephronophthisis, genetic disorders, end-stage renal disease, ciliopathy | |||||||||
| 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 | departmental bulletin paper | |||||||||
| 著者 所属 | ||||||||||
| 値 | Department of Pediatrics, Kindai University Faculty of Medicine | |||||||||
| 版 | ||||||||||
| 出版タイプ | NA | |||||||||
| 出版タイプResource | http://purl.org/coar/version/c_be7fb7dd8ff6fe43 | |||||||||
| 出版者 名前 | ||||||||||
| 出版者 | Kindai University Medical Association | |||||||||
| 書誌情報 |
en : ACTA MEDICA KINDAI UNIVERSITY 巻 44, 号 1, p. 1-8, 発行日 2019-06 |
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| ISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 03866092 | |||||||||
| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | [Abstract] Nephronophthisis (NPHP) is chronic tubulointerstitial nephritis with autosomal recessive inheritance and is one of the most common genetic disorders causing end-stage renal disease in children and adolescents. Mutations have so far been identified in 20 different genes (nephrocystin-1 [NPHP1] to NPHP20) that encode proteins related to the cilia. NPHP is characterized by a broad genetic and clinical heterogeneity, and the initial signs are polydipsia and polyuria. The urine often shows low specific gravity, low specific density, and low-molecular-weight proteins. In addition to renal dysfunction, these urinary abnormalities are considered useful findings for considering the possibility of NPHP. Approximately 15% of NPHP patients have additional extrarenal symptoms. The extrarenal involvement in NPHP might be associated with shared protein expressions in the primary cilia of multiple tissues, indicating NPHP-associated ciliopathies (NPHP-ACs). Novel gene mutations for NPHP and NPHP-ACs have been identified by whole-genome sequencing globally. The present review aims to highlight our understanding of the pathophysiology of NPHP. | |||||||||
| フォーマット | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | application/pdf | |||||||||
