| Literature DB >> 25016940 |
V Martín-Miguel1, M A Lafarga-Giribets2, L Garcia-Esteve2, M D Rodrigo-Claverol2.
Abstract
Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time. The treatment consists of oral supplements of potassium and magnesium, and the use of potassium-sparing diuretics and indomethacin has also been described.Entities:
Keywords: Alcalosis metabólica; Gitelman's syndrome; Hipopotasemia; Hypokalaemia; Metabolic alkalosis; Síndrome de Gitelman
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Year: 2014 PMID: 25016940 DOI: 10.1016/j.semerg.2013.03.003
Source DB: PubMed Journal: Semergen ISSN: 1138-3593