American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: http://www.sciepub.com/journal/ajmcr Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2018, 6(7), 124-127
DOI: 10.12691/ajmcr-6-7-1
Open AccessCase Report

Bartter Syndrome: A Rare Renal Tubulopathy Presenting with Polyuria, Generalized Weakness and Recurrent Tetany in an Adolescent Male

Satyajit -Mallick1, Hasanat MA1, Fariduddin M1, Tahseen - Mahmood1, Mohona -Zaman1 and Sharmin -Jahan1,

1Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh

Pub. Date: July 28, 2018

Cite this paper:
Satyajit -Mallick, Hasanat MA, Fariduddin M, Tahseen - Mahmood, Mohona -Zaman and Sharmin -Jahan. Bartter Syndrome: A Rare Renal Tubulopathy Presenting with Polyuria, Generalized Weakness and Recurrent Tetany in an Adolescent Male. American Journal of Medical Case Reports. 2018; 6(7):124-127. doi: 10.12691/ajmcr-6-7-1

Abstract

Bartter syndrome is a rare autosomal recessive renal tubulopathy resulting in hypokalemic, hypochloremic metabolic alkalosis with hyperreninemia. It consists of a set of closely related overlapping syndromes having variable presentation. Advances in molecular diagnostics have revealed the underlying mutations in numerous genes that affect the function of ion channels and transporters which normally mediate salt reabsorption in the distal nephron segments. The classic manifestations are childhood onset of fatigue, polyuria, polydipsia, salt craving, vomiting, dehydration, short stature, and failure to thrive. It should be suspected in any young, normotensive individual presenting with persistent hypokalemic alkalosis in the absence of surreptitious diuretic abuse. It requires high index of clinical suspicion for appropriate diagnosis and timely treatment have been shown to reverse the clinical and biochemical abnormalities thereby improve the outcome. Here we report a 19-year-old boy with classical Bartter syndrome that was treated with Potassium supplementation, NSAID, spironolactone and he showed significant improvement on subsequent follow-up.

Keywords:
hypokalemia tubulopathy Bartter syndrome Gietlman syndrome

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References:

[1]  Bartter FC, Pronove P, Gill JR. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. American Journal of Medicine. 1962. 33: 811-828.
 
[2]  Bokhari SRA, Mansur A. Bartter Syndrome. 2017 Jun. [Medline]. [Full Text].
 
[3]  Lin SH, Yang SS, Chau T. A practical approach to genetic hypokalemia. Electrolyte Blood Press. 2010 Jun. 8(1): 38-50. [Medline]. [Full Text].
 
[4]  Devarajan P. Bartter syndrome: e-Medicine. October 2008. Available at http://www.emedicine.com/PED/topic210.htm.
 
[5]  Brenner B, Levine S. Inherited disorders of renal tubule. In: Brenner and Rector's The kidney. 8th ed. Philadelphia, PA: WBSaunders; 2007:1411-1414 [chapter 40].
 
[6]  Frassetto LA. Bartter syndrome. e-Medicine from Web MD. November 2017. Available at http://emedicine.medscape.com/article/238670-pathophysiology.
 
[7]  Chen YH, Lin JJ, Jeansonne BG, et al. Analysis of claudin genes in pediatric patients with Bartter's syndrome. Ann N Y Acad Sci. 2009 May. 1165: 126-34.
 
[8]  Proesmans W, Massa G, Vanderschueren-Lodeweyckx M. Growth from birth to adulthood in a patient with theneonatal form of Bartter syndrome. Pediatr Nephrol.1988; 2: 205-209.
 
[9]  Muranjan MN, Kantharia VC, Bavdekar SB, Kabde U, Parmar RC. Neonatal Bartter syndrome. Indian J Pediatr. 2002; 69: 105-107.
 
[10]  Chaudhuri A, Salvatierra O Jr, Alexander SR, Sarwal MM. Option of pre-emptive nephrectomy and renal transplantation for Bartter's syndrome. Pediatr Transplant. 2006 Mar. 10(2): 266-70.
 
[11]  Heffernan A, Steffensen TS, Gilbert-Barness E, Perlman S. Bartter syndrome presenting as poor weight gain and abdominal mass in an infant. Fetal Pediatr Pathol. 2008; 27: 232-243.
 
[12]  Walsh SB, Unwin E, Vargas-Poussou R, Houillier P, Unwin R. Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. QJM. 2011 Nov. 104(11): 939-44.