Searchable abstracts of presentations at key conferences in endocrinology

ea0020p17 | Adrenal | ECE2009

Gitelman syndrome: clinical presentation and genetic analysis of 27 patients with hypokalemia caused by renal potassium wasting

Balavoine Anne-Sophie , Bataille Pierre , Vanhille Philippe , Azar Raymond , Glowacki Francois , Vargas-Poussou Rosa , Jeunemaitre Xavier , Wemeau Jean-Louis , Vantyghem Marie-Christine

Gitelman syndrome (GS) is a recessive salt loosing tubulopathy caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter, and characterized by secondary hyperaldosteronism, hypokalemic alkalosis, hypomagnesemia and hypocalciuria.The aim: Of the work was to investigate 27 adult patients with hypokalemia due to renal potassium wasting after exclusion of diuretics abuse, vomiting or diar...