Gitelman syndrome: Pathophysiological and clinical aspects

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

Research output: Contribution to journalArticle

Abstract

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. Hovever, patients with GS present some clinical and biochemical alterations resembling that observed in thiazide diuretics abuse.On the pathophysiological point of view, GS represents a useful and interesting human model to better understand the clinical consequences of plasma hydro-electrolytes and acid-base derangements, associated with multiple hormonal alterations. The impact of this complex disorder involves cardiovascular, muscle-skeletal and some other physiological functions, adversely affecting the patient's quality of life. This review tries to summarize and better explain the linkage between the electrolytes, neurohormonal derangements and clinical picture. Moreover, the differential diagnosis between other similar electrolyte-induced clinical disorders and GS is also discussed.

Original languageEnglish
Article numberhcq123
Pages (from-to)741-748
Number of pages8
JournalQJM
Volume103
Issue number10
DOIs
Publication statusPublished - Jul 22 2010

ASJC Scopus subject areas

  • Medicine(all)

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    Graziani, G., Fedeli, C., Moroni, L., Cosmai, L., Badalamenti, S., & Ponticelli, C. (2010). Gitelman syndrome: Pathophysiological and clinical aspects. QJM, 103(10), 741-748. [hcq123]. https://doi.org/10.1093/qjmed/hcq123