Gitelman Syndrome Overview



What?

• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter

• Gitelman's syndrome - Mutation in the SLC12A3 gene

• SLC12A3 gene - Encodes thiazide-sensitive sodium chloride cotransporter (NCCT) present in the apical membrane of cells on the distal convoluted tubule (DCT)



Clinical Presentation:

• Phenotypically similar to that of patients with thiazide diuretic abuse

• Salt craving

• Fatigue

• Muscle weakness, dizziness

• Nocturia

• Palpitations



When to suspect?

• Family history of hypokalemia

• Unexplained hypokalemia, mild hypomagnesemia

• Metabolic alkalosis

• Normal or low blood pressure



Labs:

• Hypokalemia (renal potassium wasting)

• Hypomagnesemia

• Hypochloremic metabolic alkalosis

• Hypocalciuria (spot urine, calcium-creatinine ratio 0.5%)



Differential Dx?

• Surreptitious vomiting

• Surreptitious diuretic use

• Autoimmune disease (Sjögren syndrome, Renal tubular acidosis (RTA))

• Refeeding syndrome

• Bartter syndrome

• Pseudo Bartter-Gitelman syndrome

• Laxative abuse

• Licorice

• Congenital chloride diarrhea



Potential Complications:

• Ventricular tachycardia

• Seizures

• Rhabdomyolysis



Treatment - Supplement:

• Potassium

• Magnesium



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