Simão CI, Florín YJ, Abreu AD

Language: Spanish
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ABSTRACT

Introduction: Bartter´s syndrome is a rare tubulopathy with altered reabsorption of potasium, sodium and chlorine in the thick ascending limb of the Loop of Henle. From the clinical viewpoint, it is mainly characterized by hypopotasemic metabolic alkalosis, hypereninemia, hyperaldosteronism and normotension. The genetic research has allowed identifying five mutations accountable for the five existing phenotypes.
Clinical case: female patient aged 17 months, admitted to the hospital because of polydipsia, polyuria, loss of weight and dehydration episodes, who had been previously hospitalized and treated with potassium citrate and hydrochlorotiazide. Her family and personal history was irrelevant. Through the clinical and supplementary exams, she was diagnosed with Bartter´s syndrome type III. She was treated with indomethacin and the doses of potassium citrate and of hydrochlorotiazide were adjusted for. She gradually shows good clinical and analytical response.
Conclusions: Bartter´s syndrome is an uncommon entity and the clinicians must be alert to this disease. The early diagnosis and the supporting treatment will avoid possible complications because there is no current curative therapy.