ÖZET
Gitelman sendromu halsizlik, kas güçsüzlüğü, tetani, polidipsi ve noktüri gibi semptolarla seyredebilen otozomal resesif kalıtımlı renal tübüler bir hastalıktır. Hipokaleminin yanında hipomagnezemi ve hipokalsiüri ile seyreder ve genellikle erişkin yaşta teşhis edilir. Ancak bazı olgularda tesadüfen ileri yaşlarda da tanı alabilmektedir. Biz de tesadüfen izole hipokalemi tespit edilen sonrasında furosemid yükleme testi yapılarak ve SCL12A3 gen mutasyonu saptanarak Gitelman sendromu tanısı konulan 60 yaşında bir kadın hastayı sunmayı amaçladık.
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