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

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.

• Authors: Gianmaria Brambilla, Mario Perotti, Silvia Perra, Raffaella Dell'Oro, Guido Grassi, Angela Ida Pincelli
• Journal: Journal of nephrology (J Nephrol) 2013 May-Jun Vol. 26 Issue 3 Pg. 594-8 ISSN: 1724-6059 [Electronic] Italy
• PMID: 23475471 (Publication Type: Case Reports, Journal Article)

Chemical References

• Amides
• Fumarates
• aliskiren

Topics

• Age of Onset
• Aged
• Amides (therapeutic use)
• Fumarates (therapeutic use)
• Gitelman Syndrome (complications, drug therapy, genetics)
• Humans
• Hypokalemia (etiology)
• Male