Korean J Nephrol.  2007 Jan;26(1):102-106.

Familial Gitelman Syndrome in Sisters

Affiliations
  • 1Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea. tsha@chungbuk.ac.kr

Abstract

Gitelman syndrome is a hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. This syndrome is caused by the genetic mutation of SLC12A3 gene encoding thiazide-sensitive sodium-chloride symporters in the apical membrane of distal convoluted tubular cells. Even though Gitelman syndrome is very similar to Bartter syndrome, it might be differentiated by hypomagnesemia, hypocalciuria, older onset age and higher prevalence rate. However, the precise diagnosis is made by gene variation through molecular genetic study. Herein, we report two cases of Gitelman syndrome in sisters diagnosed by familial genetic study.

Keyword

Gitelman syndrome; Genetic screening; Sodium-chloride symporters

MeSH Terms

Age of Onset
Alkalosis
Bartter Syndrome
Diagnosis
Genetic Testing
Gitelman Syndrome*
Humans
Hypokalemia
Ion Transport
Membranes
Molecular Biology
Prevalence
Siblings*
Symporters
Symporters
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