Kidney Diseases

Question 1

7 yo presents with complaint of chronic fatigue. Labs show hypokalemia, metabolic alkalosis, hypercalciuria, elevated plasma renin. What is the Dx and what is the specific defect?

Answer 1

Bartter’s syndrome

Defective Na+/K+/2Cl- transporter abolishes hypertonicity of the medulla –> inability to concentrate urine, metabolic alkalosis, hypercalciuria