- Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
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Lee JW, Lee J, Heo NJ, Cheong HI, Han JS
- KMID: 2359991
- J Korean Med Sci.
- 2016 Jan;31(1):47-54.
- doi: 10.3346/jkms.2016.31.1.47
Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are... -
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- Two Cases of Gitelman's Syndrome Diagnosed by Renal Clearance Study
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Kim TH, Kim SJ, Seo YK, Shim JY, Jung HL, Park MS, Kum DH
- KMID: 2335609
- J Korean Pediatr Soc.
- 2002 Mar;45(3):413-417.
Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter gene mutation. In... -
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