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ePublished: 16 Jan 2017
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J Renal Inj Prev. 2017;6(4): 244-246.
doi: 10.15171/jrip.2017.46

Scopus ID: 85040726579
  Abstract View: 2692
  PDF Download: 1467

Case Report

Bartter’s syndrome type 5; a case report

Parsa Yousefichijan 1, Fatemeh Dorreh 1 * , Masoud Rezagholi Zamenjany 1

1 Department of Pediatrics, Arak University of Medical Sciences, Arak, Iran
*Corresponding author: Fatemeh Dorreh, doreh.f@arakmu.ac.ir

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.
Keywords: Bartter’s syndrome, Calcium-sensing receptor, Metabolic alkalosis

Implication for health policy/practice/research/medical education:

Activating mutation of the calcium-sensing receptor (CaSR) causes hypocalcaemia with hypercalciuria and it may also cause a Bartter’s phenotype by inhibition of transporters in thick ascending limb of the loop of Henle (Bartter’s syndrome type 5). Several mutations have been identified in the CaSR gene. The clinical presentation and onset timing of Bartter phenotype differ according to the type of mutation.

Please cite this paper as: Yousefichijan P, Dorreh F. Rezagholi Zamenjany M. Bartter’s syndrome type 5; a case report. J Renal Inj Prev. 2017;6(4):244-246. DOI: 10.15171/jrip.2017.46.

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