Gitelman Syndrome - Diagnosis and Workup Blood Work: - Hypokalemia - Hypomagnesemia - Metabolic Alkalosis - Elevated Renin Urine Testing: - Hypocalciuria - Inappropriate renal K+ wasting - Inappropriate renal Mg++ wasting - Fractional excretion of Cl > 0.5% Clinical History: - Age >3 at presentation Normotensive - No diuretic or laxative use - No family history of autosomal dominant kidney disease Renal Imaging: - Normal Renal Ultrasound - No prenatal diagnosis of echogenic kidneys Genetic Testing: Biallelic inactivating mutations in SLC12A3 Dr. Missy Hanna @dr_missyhanna #Gitelman #Syndrome #Diagnosis #Workup #nephrology
