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

Gianmaria Brambilla, Mario Perotti, Silvia Perra, Raffaella'Oro Dell, Guido Grassi, Angela Ida Pincelli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)594-598
Number of pages5
JournalJournal of Nephrology
Volume26
Issue number3
DOIs
Publication statusPublished - May 2013

Keywords

  • Aliskiren
  • Gitelman syndrome
  • Hyperaldosteronism
  • Renin inhibitor

ASJC Scopus subject areas

  • Nephrology

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