It is never too late for a genetic disease: A case of a 79-year-old man with persistent hypokalemia

摘要

Background: We describe a 79-year-old man with biochemical and radiological features of Gitelman syndrome: hypokalemia, hypomagnesemia, hyperreninemic hyperaldosteronism in absence of secondary hyperaldosteronism causes, and chondrocalcinosis. Methods and results: The diagnosis was confirmed by sequence analysis of the SLC12A3 gene showing the compound heterozygous mutation Gly439Ser and Arg1018Term. Aliskiren, a direct renin inhibitor, in combination with potassium and magnesium oral supplements was effective in ameliorating the electrolytic imbalance without any adverse effects. Conclusion: This study has shown for the first time that aliskiren may represent a reliable and safe treatment as an alternative to potassium-sparing diuretics for Gitelman syndrome.