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

Satyajit -Mallick,Hasanat Ma,Tahseen - Mahmood,Mohona -Zaman,Fariduddin M,Sharmin -Jahan

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.

Highlights

Bartter syndrome represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure resulting into excessive urinary losses of sodium, chloride, and potassium
A 19-year-old student was admitted with increased frequency of micturition since 4 years of age and generalized weakness and fatigue for last 6 years. He was the only issue of consanguineous marriage, born at full term with normal birth weight having no significant ante-natal or post natal event .He stated increased frequency of micturition 8 to 10 times per day, relatively more frequent at night associated with dry mouth and polydipsia without any documentation of urine volume
Originally described by Bartter and colleagues in 1962 [1], represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure

Summary

Introduction

Bartter syndrome represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure resulting into excessive urinary losses of sodium, chloride, and potassium. Bartter’s syndrome in mildest form may go unrecognized for a long period

Case Presentation

Discussion

Conclusion