Abstract
Bartter’s syndrome is a heterogeneous rare disease occurring due to deficiency in sodium and chloride absorption. Biochemical profile is hypokalemic metabolic alkalosis, renal salt wasting, elevated renin and aldosterone levels with normal or low blood pressure. In some individuals, hypercalciuria is also present. Mutations in several genes have been associated with the disorder. Gain of function mutations in the calcium-sensing receptor (CaSR) has been described in some patients with Bartter’s syndrome associated to hypocalcemia and hypercalciuria (Bartter’s syndrome type 5). In a 27-month-old boy with type 5 Bartter’s syndrome, who presented with seizure, laboratory results showed hypocalcemia, metabolic alkalosis, sever hypokalemia and a low level of PTH. Calcium and vitamin D supplements were prescribed and the seizure was controlled. There are several subtypes of Bartter’s syndrome with distinct phenotypes. Type 5 of Bartter’s syndrome results from mutation leading to upregulation of the CaSR and therefore hypocalcemia and hypercalciuria in addition to the typical salt-losing phenotype.
Highlights
Bartter’s syndrome is a heterogeneous disorder characterized by deficient renal sodium and chloride reabsorption, and hypokalemic metabolic alkalosis with hyperreninemia, hyperaldosteronemia
Activating mutations of calcium-sensing receptor (CaSR) cause autosomal dominant hypocalcaemia associated with relative hypercalciuria [5]
We report a case with type 5 Bartter’s syndrome, who presented with seizure and hypocalcemia
Summary
Bartter’s syndrome is a heterogeneous disorder characterized by deficient renal sodium and chloride reabsorption, and hypokalemic metabolic alkalosis with hyperreninemia, hyperaldosteronemia. Affected patients present with normal or low blood pressure, hyperreninemia, hypokalemia, and a tendency towards hypercalciuria and nephrocalcinosis in the neonatal variant [1,2]. Further abnormalities in the metabolism of calcium, calciotropic hormones, and inorganic phosphate have been noted, sometimes, in these disorders, data characterizing the classic calciotropic hormone levels during stable phases of the condition are sparse [3]. We report a case with type 5 Bartter’s syndrome, who presented with seizure and hypocalcemia. A pediatric nephrologist had been following his since he was 6 months of age, with the diagnosis of typical Bartter’s syndrome with hypokalemic metabolic alkalosis. Calcium level normalized after treatment and patient discharged with good condition
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