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What are your next steps when managing patients with suspected Gitelman syndrome for whom genetic testing reveals variants of uncertain significance or novel mutations not well characterized?

2 Answers
Mednet Member
Mednet Member
Nephrology · Rush Medical College

If the patient had a clinical syndrome that fit the Gitelman phenotype I would totally treating as such.

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Mednet Member
Mednet Member
Nephrology · UCLA

The patient should be treated for Gitelman syndrome if the patient has hypokalemia due to renal potassium wasting, hypomagnesemia due to renal magnesium wasting, elevated renin and aldosterone levels, low or normal blood pressure, metabolic alkalosis with urinary chloride concentration greater than ...

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