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?
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Do you treat for Gitelman syndrome when there is suspicion for the disorder, but genetic testing reveals variants of uncertain significance or novel mutations not well characterized?
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2 Answers
Mednet MemberInvited Expert
Nephrology · Rush Medical College
Answered on
If the patient had a clinical syndrome that fit the Gitelman phenotype I would totally treating as such.
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Mednet MemberInvited Expert
Nephrology · UCLA
Answered on
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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