title: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Clinical Medicine, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy.
authors.forename: Gianmaria
authors.initials: G
authors.lastname: Brambilla
authors.forename: Mario
authors.initials: M
authors.lastname: Perotti
authors.forename: Silvia
authors.initials: S
authors.lastname: Perra
authors.forename: Raffaella
authors.initials: R
authors.lastname: Dell'Oro
authors.forename: Guido
authors.initials: G
authors.lastname: Grassi
authors.forename: Angela Ida
authors.initials: AI
authors.lastname: Pincelli
mesh_terms: D017668:Age of Onset; D000368:Aged; D000577:Amides / Q000627:therapeutic use; D005650:Fumarates / Q000627:therapeutic use; D053579:Gitelman Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007008:Hypokalemia / Q000209:etiology; D008297:Male
chemical_list: D000577:Amides; D005650:Fumarates; C446481:aliskiren