Renal sodium transport abnormality: Gitelman's syndrome and renal sodium transporter

K. Takeuchi, Y. Taniyama, S. Ito, M. Yasujima

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)

Abstract

Recent studies using molecular biological methods have enabled us to identify the genetic abnormality in renal electrolyte metabolism. In renal tubules, diuretic sensitive Na transporter systems are present, and key molecules have been cloned. Thiazide-sensitive Na-Cl contransporter (TSC) is one of the molecules localized in the distal convoluted tubule, whose genetic abnormality causes Gitelman's syndrome (a variant of Bartter's syndrome characterized by dehydration, hypokalemic metabolic alkalosis, secondary aldosteronism lacking hypertension, hypomagnesemia, and hypocalciuria). We identified a mutation in TSC (Leu to Pro change at 623 amino acid position, L623P) in familial Gitelman's syndrome, and we confirmed the loss of TSC function by this mutation in a functional expression system using mammalian cells. This L623P mutation has been found in other patients with Gitelman's syndrome living in the northern part of Japan.

Original languageEnglish
Pages (from-to)1128-1133
Number of pages6
JournalRinsho byori. The Japanese journal of clinical pathology
Volume47
Issue number12
Publication statusPublished - 1999 Dec

ASJC Scopus subject areas

  • Medicine(all)

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