Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene
Author:
Affiliation:
1. Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/60/10/60_5977-20/_pdf
Reference31 articles.
1. 1. Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30, 1996.
2. 2. Bhandari S, Turney JH. The molecular basis of hypokalaemic alkalosis: Bartter's and Gitelman's syndromes. Nephron 80: 373-379, 1998.
3. 3. Bettinelli A, Bianchetti MG, Girardin E, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43, 1992.
4. 4. Mastroianni N, De Fusco M, Zollo M, et al. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 35: 486-493, 1996.
5. 5. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235, 1966.
Cited by 2 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. Monogenic Kidney Diseases in Kidney Transplantation;Kidney International Reports;2023-12
2. Successful living kidney donation from a patient with a Gitelman’s syndrome;BMJ Case Reports;2022-02
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