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 -Jahan^1,

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

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

Copyright

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