| 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
Nozu, Kandai
Yamamura, Tomohiko
Minamikawa, Shogo
Nakanishi, Keita
Horinouchi, Tomoko
Nagano, China
Sakakibara, Nana
Nakanishi, Koichi
Shima, Yuko
Miyako, Kenichi
Nozu, Yoshimi
Morisada, Naoya
Nagase, Hiroaki
Ninchoji, Takeshi
Kaito, Hiroshi
Iijima, Kazumoto
|
| 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 |
|
|
出版者 |
Elsevier |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 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 |
| 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 |
|
|
収録物名 |
Kidney international reports |
|
言語 |
en |
| 書誌情報 |
巻 4,
号 1,
p. 119-125,
発行日 2019-01
|
1-s2.0-S2468024918302158-main.pdf
