J Korean Soc Pediatr Nephrol.
2004 Apr;8(1):68-73.
A Case of Gitelman Syndrome Presented with Epileptic Seizure
- Affiliations
-
- 1Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine, Korea. jsyonse@yumc.yonsei.ac.kr
- 2Department of Pediatrics, Seoul National University College of Medicine, Korea.
- 3Seoul Clinical Genomics Inc., Seoul, Korea
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.
