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.
Brambilla, G., Perotti, M., Perra, S., Dell'Oro, R., Grassi, G., Pincelli, A. (2013). It is never too late for a genetic disease: a case of a 79-year-old man with persistent hypokalemia. JN. JOURNAL OF NEPHROLOGY, 26(3), 594-598 [10.5301/jn.5000256].
It is never too late for a genetic disease: a case of a 79-year-old man with persistent hypokalemia
BRAMBILLA, GIANMARIA;PEROTTI, MARIO;DELL'ORO, RAFFAELLA;GRASSI, GUIDO;
2013
Abstract
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.
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