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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