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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

http://hdl.handle.net/20.500.12000/45950
http://hdl.handle.net/20.500.12000/45950
b502cdbc-fa0e-4edf-acd4-887b868bee66
名前 / ファイル ライセンス アクション
1-s2.0-S2468024918302158-main.pdf 1-s2.0-S2468024918302158-main.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-05-29
タイトル
タイトル Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
言語 en
作成者 Fujimura, Junya

× Fujimura, Junya

en Fujimura, Junya

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Nozu, Kandai

× Nozu, Kandai

en Nozu, Kandai

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Yamamura, Tomohiko

× Yamamura, Tomohiko

en Yamamura, Tomohiko

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Minamikawa, Shogo

× Minamikawa, Shogo

en Minamikawa, Shogo

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Nakanishi, Keita

× Nakanishi, Keita

en Nakanishi, Keita

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Horinouchi, Tomoko

× Horinouchi, Tomoko

en Horinouchi, Tomoko

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Nagano, China

× Nagano, China

en Nagano, China

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Sakakibara, Nana

× Sakakibara, Nana

en Sakakibara, Nana

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Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

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Shima, Yuko

× Shima, Yuko

en Shima, Yuko

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Miyako, Kenichi

× Miyako, Kenichi

en Miyako, Kenichi

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Nozu, Yoshimi

× Nozu, Yoshimi

en Nozu, Yoshimi

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Morisada, Naoya

× Morisada, Naoya

en Morisada, Naoya

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Nagase, Hiroaki

× Nagase, Hiroaki

en Nagase, Hiroaki

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Ninchoji, Takeshi

× Ninchoji, Takeshi

en Ninchoji, Takeshi

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Kaito, Hiroshi

× Kaito, Hiroshi

en Kaito, Hiroshi

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Iijima, Kazumoto

× Iijima, Kazumoto

en Iijima, Kazumoto

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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
権利情報
言語 en
権利情報 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0
権利情報
言語 en
権利情報Resource https://creativecommons.org/licenses/by-nc-nd/4.0/
権利情報 https://creativecommons.org/licenses/by-nc-nd/4.0/
主題
言語 en
主題Scheme Other
主題 febrile convulsion
主題
言語 en
主題Scheme Other
主題 QT prolongation
主題
言語 en
主題Scheme Other
主題 salt-losing tubulopathy
主題
言語 en
主題Scheme Other
主題 SLC12A3
主題
言語 en
主題Scheme Other
主題 thyroid
内容記述
内容記述タイプ Other
内容記述 Introduction:Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most oftendiagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptomsassociated with hypokalemia and/or hypomagnesemia or short stature. As for complications, thyroiddysfunction and short stature are known, but the incidence rates for these complications have not yet beenelucidated. In addition, no genotype–phenotype correlation has been identified in GS. Methods:We examined the clinical characteristics and genotype–phenotype correlation in geneticallyproven GS cases with homozygous or compound heterozygous variants inSLC12A3(n¼185). Results:In our cohort, diagnostic opportunities were by chance blood tests (54.7%), tetany (32.6%), orshort stature (7.2%). Regarding complications, 16.3% had short stature, 13.7% had experienced febrileconvulsion, 4.3% had thyroid dysfunction, and 2.5% were diagnosed with epilepsy. In one case, QT pro-longation was detected. Among 29 cases with short stature, 10 were diagnosed with growth hormone (GH)deficiency and GH replacement therapy started. Interestingly, there was a strong correlation in serummagnesium levels between cases with p.Arg642Cys and/or p.Leu858His and cases without these variants,which are mutational hotspots in the Japanese population (1.76 mg/dl vs. 1.43 mg/dl,P<0.001). Conclusion:This study has revealed, for thefirst time, clinical characteristics in genetically proven GScases in the Japanese population, including prevalence of complications. Patients with hypokalemiadetected by chance blood test should have gene tests performed. Patients with GS need attention fordeveloping extrarenal complications, such as short stature, febrile convulsion, thyroid dysfunction, epi-lepsy, or QT prolongation. It was also revealed for thefirst time that hypomagnesemia was not severe insome variants in SLC12A3.
内容記述
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Elsevier
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45950
識別子タイプ HDL
関連情報
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.ekir.2018.09.015
関連情報
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.ekir.2018.09.015
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2468-0249
収録物名
言語 en
収録物名 Kidney international reports
書誌情報
巻 4, 号 1, p. 119-125, 発行日 2019-01
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