A Case Report on Bartter Syndrome as Urinary Tract Stone and Poor Weight Gain in a One-Year Old Child

摘要

Introduction: Bartter syndrome (BS) is a rare metabolic disorder causing defect in sodium and chloride absorption in the thick ascending limb of Henlea??s loop and increased urinary loss of sodium chloride (Na), chloride (Cl), and prostaglandins. Case Presentation: We present the case of a 1-year-old girl with BS presenting with vomiting, poor feeding, and agitation. Physical examination revealed muscle weakness, developmental delay, and failure to thrive. Laboratory investigations revealed hypokalemia, metabolic alkalosis, hyponatremia, and hypokalemia. Urinary investigations revealed raised urinary chloride, sodium, potassium, and calcium levels. Renal ultrasound revealed a renal calculus in the lower calyx of the right kidney with hydronephrosis. Conclusions: The basic defect in BS is the loss of one of the transporters involved in sodium reabsorption in the thick ascending limb on the Henlea??s loop or apical K channel. BS is characterized by severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, and hyperaldosteronism. In BS, increased urinary loss of sodium, potassium, and chloride is observed.