Bartter Syndrome

Bartter syndrome is an inherited salt-wasting tubulopathy affecting the thick ascending limb of the loop of Henle (NKCC2/ROMK mutations). It causes hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism, normal or low blood pressure, hypercalciuria, and polyuria. It presents in childhood with failure to thrive, polydipsia/polyuria, and fatigue. Treatment: potassium/magnesium repletion, NSAIDs, ACE inhibitors; salt supplementation.

Common Symptoms

Failure to thrive; polyuria/polydipsia; weakness; hypokalemia; metabolic alkalosis; normal BP; hypercalciuria

Causes and Pathogenesis

Inactivating mutations in NKCC2/ROMK/Barttin cause impaired loop salt reabsorption, salt wasting, volume depletion, secondary hyperreninemic hyperaldosteronism with hypokalemic alkalosis.

Treatment

Salt supplementation; potassium/magnesium repletion; NSAIDs (indomethacin); ACE inhibitors; spironolactone

Preventive Measures

Genetic counseling; lifelong electrolyte monitoring; avoid volume depletion.

Department to Visit

It is recommended to visit the Nephrology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.