Clinical and experimental nephrology
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Clin. Exp. Nephrol. · Apr 2012
Case ReportsGitelman syndrome: novel mutation and long-term follow-up.
We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. ⋯ Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.