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

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