Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus-Reference-Cited by-同舟云学术

Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus

Published:2021-10-06 Issue: Volume: Page:
ISSN:2192-4449
Container-title:CEN Case Reports
language:en
Short-container-title:CEN Case Rep

Author:

Iio Kenichiro^ORCID,Mori Takayasu,Bessho Saki,Imai Yosuke,Hatanaka Masaki,Omori Hiroki,Kouhara Haruhiko,Chiga Motoko,Sohara Eisei,Uchida Shinichi,Kaimori Jun-Ya

Publisher

Springer Science and Business Media LLC

Subject

General Earth and Planetary Sciences,General Environmental Science

Link

https://link.springer.com/content/pdf/10.1007/s13730-021-00652-4.pdf

Reference23 articles.

1. Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, et al. Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int. 2017;91:24–33.

2. Mori T, Chiga M, Fujimaru T, Kawamoto R, Mandai S, Nanamatsu A, et al. Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood. Hum Mutat. 2021;42:300–9.

3. Mori T, Hosomichi K, Chiga M, Mandai S, Nakaoka H, Sohara E, et al. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel. Clin Exp Nephrol. 2017;21:63–75.

4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

5. Lee JW, Lee J, Heo NJ, Cheong HI, Han JS. Mutations in SLC12A3 and CLCNKB and their correlation with clinical phenotype in patients with Gitelman and Gitelman-like syndrome. J Korean Med Sci. 2016;31:47–54.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing;Medicine;2023-06-16

2. Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction;Nephron;2023

3. Magnesium-oxide/potassium-chloride;Reactions Weekly;2022-06