USMLE/COMLEX - Step 2 - Bartter Syndrome
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USMLE/COMLEX - Step 2 - Bartter Syndrome
Pathophysiology
Defective Na+-K+-2Cl- cotransporter in the thick ascending loop of Henle
Symptoms
Severe polyuria and polydipsia
Muscle atrophy
Weakness
Cramps
Failure to thrive
Developmental delay
Dysmorphic facies
Strabismus
Sensorineural deafness
Symptoms of renal colic may occur as a result of calcium stones
Diagnosis
Laboratory diagnostics
Responds to thiazide and loop diuretics
Genetic testing is confirmatory
Treatment
Spironolactone
Amiloride