• Title/Summary/Keyword: Thiazide-sensitive $Na^+-Cl^-$cotransporter (NCCT)

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A Case of Gitelman Syndrome Presented with Epileptic Seizure (간질 발작으로 내원하여 진단된 Gitelman 증후군 1례)

  • Park Jee-Min;Kim Jeong-Tae;Shin Jae-Il;Kim Heung-Dong;Kim Tae-Young;Cheong Hae-Il;Lee Jae-Seung
    • Childhood Kidney Diseases
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    • v.8 no.1
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    • pp.68-73
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    • 2004
  • 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($^{642}$CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.

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Gitelman Syndrome with Normal Serum Magnesium (정상 마그네슘혈증의 Gitelman 증후군 1례)

  • Cheon, Younghee;Seo, Ji Hye;Cheong, Hae Il;Park, Yong Hoon
    • Childhood Kidney Diseases
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    • v.16 no.2
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    • pp.121-125
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    • 2012
  • Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, and it is distinguished from Batter syndrome by hypomagnesemia and hypocalciuria. This disorder is caused by mutation in SLC12A3 gene which encodes thiazide-sensitive $Na^+-Cl^-$cotransporter (NCCT) which is expressed in the apical membrane of cells, lining distal convoluted tubule. A 8-year old boy who presented with Rolandic epilepsy, and horseshoe kidney accidentally showed clinical features of metabolic alkalosis, hypokalemia, hypocalciuria without hypomagnesemia. So we identified a heterozygote mutation and an abnormal splicing in the SLC12A3 gene, encoding NCCT. The mutation was detected in the exon 15 and 22 of SLC12A3 gene.