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Article

Gitelman syndrome: pathophysiological and clinical aspects.

QJM : monthly journal of the Association of Physicians - 1 Oct 2010

Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C

Abstract excerpt

Giltelman syndrome (GS) is a recessive salt-losing tubulopathy of children or young adults caused by a mutation of genes encoding the human sodium chloride cotransporters and magnesium channels in the thiazide-sensitive segments of the distal convoluted tubule. The plasma biochemical picture is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hypereninemic hyperaldosteronism....

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Source

Identifiers

PMID: 20650971
DOI: 10.1093/qjmed/hcq123

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Source receipt: pubmed, retrieved 7 Sept 2026.

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