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https://hdl.handle.net/20.500.14094/90007099
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2024-04-27
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90007099 (fulltext)
pdf
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メタデータID
90007099
アクセス権
open access
出版タイプ
Accepted Manuscript
タイトル
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy
著者
Nozu, Kandai ; Yamamura, Tomohiko ; Horinouchi, Tomoko ; Nagano, China ; Sakakibara, Nana ; Ishikura, Kenji ; Hamada, Riku ; Morisada, Naoya ; Iijima, Kazumoto
著者ID
A1366
研究者ID
1000070362796
KUID
https://kuid-rm-web.ofc.kobe-u.ac.jp/search/detail?systemId=cfe7f9e40ab7db60520e17560c007669
著者名
Nozu, Kandai
野津, 寛大
ノヅ, カンダイ
所属機関名
医学研究科
著者ID
A0868
研究者ID
1000030770242
KUID
https://kuid-rm-web.ofc.kobe-u.ac.jp/search/detail?systemId=cead95bcb1b9c2ee520e17560c007669
著者名
Yamamura, Tomohiko
山村, 智彦
ヤマムラ, トモヒコ
所属機関名
医学研究科
著者ID
A2532
研究者ID
1000030754593
KUID
https://kuid-rm-web.ofc.kobe-u.ac.jp/search/detail?systemId=050f3887e6a59356520e17560c007669
著者名
Horinouchi, Tomoko
堀之内, 智子
ホリノウチ, トモコ
所属機関名
医学部附属病院
著者ID
A2410
研究者ID
1000060814316
著者名
Nagano, China
長野, 智那
ナガノ, チナ
所属機関名
医学研究科
著者名
Sakakibara, Nana
著者名
Ishikura, Kenji
著者名
Hamada, Riku
著者名
Morisada, Naoya
著者ID
A0877
研究者ID
1000000240854
著者名
Iijima, Kazumoto
飯島, 一誠
イイジマ, カヅモト
所属機関名
医学研究科
収録物名
Pediatrics International
巻(号)
62(4)
ページ
428-437
出版者
Wiley
刊行日
2020-04
公開日
2021-05-01
抄録
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild classic type, which is usually found during infancy with failure to thrive. GS can be clinically differentiated from BS by its age at onset, usually after school age, or laboratory findings of hypomagnesemia and hypocalciuria. Recent advances in molecular biology have shown that these diseases can be genetically classified into type 1 to 5 BS and GS. As a result, it has become clear that the clinical classification of antenatal/neonatal BS, classic BS, and GS does not always correspond to the clinical symptoms associated with the genotypes in a one-to-one manner; and there is clinically no clear differential border between type 3 BS and GS. This has caused confusion among clinicians in the diagnosis of these diseases. It has been proposed that the disease name "inherited salt-losing tubulopathy" can be used for cases of tubulopathies accompanied by hypokalemia and metabolic alkalosis. It is reasonable to use this term prior to genetic typing into type 1-5 BS or GS, to avoid confusion in a clinical setting. In this article, we review causative genes and phenotypic correlations, diagnosis, and treatment strategies for salt-losing tubulopathy as well as the clinical characteristics of pseudo-BS/GS, which can also be called a "salt-losing disorder".
キーワード
Bartter syndrome
CASR
congenital chloride diarrhea
Gitelman syndrome
HNF1B
pseudo-Bartter syndrome
pseudo-Gitelman syndrome
カテゴリ
医学研究科
医学部附属病院
学術雑誌論文
権利
© 2019 Japan Pediatric Society. This is the peer reviewed version of the following article: [Nozu, K., Yamamura, T., Horinouchi, T., Nagano, C., Sakakibara, N., Ishikura, K., Hamada, R., Morisada, N. and Iijima, K. (2020), Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy. Pediatrics International, 62: 428-437], which has been published in final form at https://doi.org/10.1111/ped.14089. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
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資源タイプ
journal article
言語
English (英語)
ISSN
1328-8067
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eISSN
1442-200X
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NCID
AA11631585
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関連情報
DOI
https://doi.org/10.1111/ped.14089
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