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Article

Diagnosis of a case of Gitelman's syndrome based on renal clearance studies and gene analysis of a novel mutation of the thiazide-sensitive Na-Cl cotransporter.

Journal of endocrinological investigation - 1 Oct 2005

Kageyama K, Terui K, Shoji M, Tsutaya S, Matsuda E, Sakihara S, Nigawara T, Moriyama T, Yasujima M, Suda T

Abstract excerpt

Gitelman's syndrome is a recessively inherited renal tubular disorder characterized by low plasma potassium and magnesium levels, reduced calcium excretion, metabolic alkalosis, and increased plasma renin activity and plasma aldosterone concentration with normal blood pressure levels. A 23-yr-old...

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Identifiers

PMID: 16370563
DOI: 10.1007/BF03347574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16370563-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Diagnosis of a case of Gitelman's syndrome based on renal clearance studies and gene analysis of a novel mutation of the thiazide-sensitive Na-Cl cotransporter.PMID 16370563Read ↗

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Gitelman syndrome: pathophysiological and clinical aspects.Semantic proximity Read ↗

A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.Semantic proximity Read ↗

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.Semantic proximity Read ↗

A rare case of Gitelman's syndrome presenting with hypocalcemia and osteopenia.Semantic proximity Read ↗

Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.Semantic proximity Read ↗

Gitelman syndrome with normocalciuria - a case report.Semantic proximity Read ↗

Value of Chloride Clearance Test in Differential Diagnosis of Gitelman Syndrome.Semantic proximity Read ↗

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.Semantic proximity Read ↗

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.Semantic proximity Read ↗

Gitelman Syndrome in a Pregnant WomanSemantic proximity Read ↗

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