Abstract
Bartter and Gitelman's syndromes are hereditary disorders characterized by a remarkable reduction of salt transportation by the thick ascending limb of the Henle's loop. Consequently, patients suffering from Bartter syndrome present with renal salt wasting, low blood pressure, hypokalemic metabolic alkalosis and hipercalciuria and are at risk of developing renal stones. Recent progress in molecular genetics has contributed to classify the syndrome in different subtypes, depending on the channel involved. Very little is known on the phenotypic characterization of this disorder in Colombia-South America.
Highlights
Bartter and Gitelman’s syndromes are a group of hereditary tubulopathies with both a marked reduction on the urinary concentration and a decrease in the transport of the sodium chloride in the distal nephron; they are characterized by salt renal lost, hypokalemia [1,2] hyperreninemic hyperaldosteronism and juxtaglomerular hyperplasia [3,4]
Nephrocalcinosis was observed in six patients (35.2%). 100% of the patients with the neonatal Bartter syndrome with potassium supplements; 87.5% are being treated with spironolactone; 62.5% take indomethacin; only one of the patients takes magnesium. 100% of the patients Gitelman’s syndrome required potassium and magnesium; 25% take indomethacin; 62.5% take spironolactone
Only one patient received ECA inhibitors. This is the first Colombian study aiming at characterize the phenotypic features in a set of patients with Bartter and Gitelman’s syndromes
Summary
Bartter and Gitelman’s syndromes are a group of hereditary tubulopathies with both a marked reduction on the urinary concentration and a decrease in the transport of the sodium chloride in the distal nephron; they are characterized by salt renal lost, hypokalemia [1,2] hyperreninemic hyperaldosteronism and juxtaglomerular hyperplasia [3,4]. It is a rare disease, its prevalence is approximately 1 in 50.000 inhabitants [5]; it has neither ethnic predilection nor gender differences. The Gitelman’s syndrome is recognized from the Bartter’s by the hypomagnesaemia and hypocalciuria seen in the former [4,6]
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