| Gitelman syndrome: pathophysiological and clinical aspects. | |
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MedLine Citation:
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PMID: 20650971 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. However, 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. |
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Authors:
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G Graziani; C Fedeli; L Moroni; L Cosmai; S Badalamenti; C Ponticelli |
Publication Detail:
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Type: Journal Article Date: 2010-07-22 |
Journal Detail:
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Title: QJM : monthly journal of the Association of Physicians Volume: 103 ISSN: 1460-2393 ISO Abbreviation: QJM Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9438285 Medline TA: QJM Country: England |
Other Details:
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Languages: eng Pagination: 741-8 Citation Subset: IM |
Affiliation:
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Nephrology and Dialysis Unit, IRCCS Istituto Clinico Humanitas, Rozzano, Milano, Italy. giorgio.graziani@humanitas.it |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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