USMLE/COMLEX - Step 2 - Gitelman Syndrome
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USMLE/COMLEX - Step 2 - Gitelman Syndrome
Etiology
Defect in the SLC12A3 gene on chromosome 16p
Symptoms
Fatigue
Muscle weakness
Cramps
Mild polyuria
Diagnosis
Laboratory diagnostics
Responds to thiazide and loop diuretics
Genetic testing is confirmatory
Treatment
Spironolactone
Amiloride