A Case of Gitelman Syndrome Presented with Epileptic Seizure.
- Author:
Jee Min PARK
1
;
Jeong Tae KIM
;
Jae Il SHIN
;
Heung Dong KIM
;
Tae Young KIM
;
Hae Il CHEONG
;
Jae Seung LEE
Author Information
1. Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine, Korea. jsyonse@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Gitelman syndrome;
Epileptic seizure;
SLC12A3 gene;
Thiazide-sensitive Na-Cl cotransporter(NCCT);
Mutation
- MeSH:
Adult;
Alkalosis;
Bartter Syndrome;
Child;
Epilepsy*;
Female;
Gitelman Syndrome*;
Heterozygote;
Humans;
Hypokalemia;
Hypotension;
Muscle Weakness;
Tetany
- From:Journal of the Korean Society of Pediatric Nephrology
2004;8(1):68-73
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Both Gitelman syndrome and Bartter syndrome are autosomal recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Gitelman syndrome is caused by mutations in the thiazide-sensitive Na- Cl cotransporter (NCCT) and distinguished from Bartter syndrome, which is associated with mutations of several genes, by the presence of hypomagnesemia and hypocalciuria. In most of the patients with Gitelman syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adult period, but, often, is asymptomatic. We report here an 11 years-old female with Gitelman syndrome who presented with aggravation of epileptic seizure. The diagnostic work-up showed typical clinical features of metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. We also identified a heterozygote mutation(642CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.
