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Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency
http://hdl.handle.net/10069/40325
http://hdl.handle.net/10069/40325d84c917e-23ae-4ca5-8c99-056b276f10fa
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
CENCR9_375.pdf (288.6 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2020-12-16 | |||||
| タイトル | ||||||
| タイトル | Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Bartter syndrome | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | CLCNKB | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Salt-losing tubulopathies | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | SLC12A1 | |||||
| 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 | |||||
| 著者 |
Umene, Ryusuke
× Umene, Ryusuke× Kitamura, Mineaki× Arai, Hideyuki× Matsumura, Kazuki× Ishimaru, Yuka× Maeda, Kanenori× Uramatsu, Tadashi× Obata, Yoko× Mori, Takayasu× Sohara, Eisei× Uchida, Shinichi× Nishino, Tomoya |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept, salt-losing tubulopathies (SLTs), has been used instead. Despite the existence of several SLT causative genes, cases of digenic heterozygous mutations in two different genes are extremely rare. Here, we report the case of a 36-year-old woman with renal insufficiency and hypokalemia caused by an SLT. To evaluate the SLT phenotype, we performed next-generation sequencing (NGS) with a gene panel including SLC12A3,SLC12A1, CLCNKB, and CLCNKA as well as laboratory examinations and diuretic loading tests. The results of the diuretic loading tests were consistent with a GS phenotype, while the NGS results showed that the patient had heterozygous mutations in SLC12A1 and CLCNKB. Both genes have been associated with BS,suggesting that the SLT was caused by digenic heterozygous mutations in two different genes. To date, only a few SLT cases caused by digenic heterozygous mutations in two different genes have been reported. The digenic SLT phenotype in the patient was presumably accelerated by moderate renal insufficiency. |
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| 書誌情報 |
CEN Case Reports 巻 9, 号 4, p. 375-379, 発行日 2020-06-06 |
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| 出版者 | ||||||
| 出版者 | Springer Nature | |||||
| EISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 21924449 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1007/s13730-020-00489-3 | |||||
| 権利 | ||||||
| 権利情報 | c 2020 the Japanese Society of Nephrology. This is a post-peer-review, pre-copyedit version of an article published in CEN case reports. The final authenticated version is available online at: http://dx.doi.org/10.1007/s13730-020-00489-3 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | CEN case reports, 9(4), pp.375-379; 2020 | |||||
