Osteomalacia in a Case of Adult-Onset Bartter Syndrome
  • Rashid Naseem Khan
    Internal Medicine, Liaquat College of Medicine and Dentistry and Darul Sehat Hospital, Karachi, Pakistan
  • Farhana Saba
    Internal Medicine, Liaquat College of Medicine and Dentistry and Darul Sehat Hospital, Karachi, Pakistan

Keywords

Bartter syndrome, metabolic alkalosis, hypokalemia, hypocalcemia, osteomalacia, CaSR

Abstract

Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

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References

  • FC Bartter, P Pronove, JR Gill Jr, RC MacCardle. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962;33:811–828
  • Bartter syndrome. https://rarediseases.org/rare-diseases/bartters-syndrome
  • Accessed: 20th June 2017
  • Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaître X, Paillard M, et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002 Sep;13(9):2259-66.
  • Hannan FM, Babinsky, Thakker RV. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol 2016 Oct;57(3):R127–R142
  • Guay-Woodford LM. Hereditary nephropathies and developmental abnormalities of the urinary tract. In: Cecil RLF, Goldman L, Schafer AI, editors. Goldman's Cecil Medicine. 25th ed. Elsevier Health Sciences. 2012;p.801-802.
  • Gardner, J., Lapey, A., Simopoulos, A. P., Bravo, E. Evidence for a primary disturbance of membrane transport in Bartter's syndrome and Liddle's syndrome. (Abstract) J Clin Invest 1970;49:32
  • Ramos, E., Hall-Craggs, M., Demer, L. M. Surreptitious habitual vomiting simulating Bartter's syndrome. JAMA 1980;243:1070-1072
  • Baehler, R. W., Work, J., Kotchen, T. A., McMorrow, G., Guthrie, G. Studies on the pathogenesis of Bartter's syndrome. Am J Med 1980;69:933-938
  • Vezzoli G1, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, et al. Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. J Nephrol 2006 Jul-Aug;19(4):525-8.
  • Choi KH, Shin CH, Yang SW, Cheong H. Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C. Korean J Pediatr. 2015 April;58(4):148–153

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    Published: 2018-01-09
    Issue: Vol. 5 No. 3 (view)

    How to cite:
    1.
    Naseem Khan R, Saba F. Osteomalacia in a Case of Adult-Onset Bartter Syndrome. EJCRIM 2018;5 doi:10.12890/2018_000764.

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