GITELMAN SYNDROME

Yulistia Asmi, Harnavi Harun

Abstract


Sindroma Gitelman, dikenal sebagai hipokalemia-hipomagnesemia familial, merupakan kelainan tubular autosom resesif yang ditandai dengan alkalosis metabolik, hipokalemik dengan hipomagnesemia dan hipokalsiuria. Sindrom Gitelman muncul pada usia remaja atau dewasa muda namun sering tidak terdiagnosis sampai dewasa. Sindroma Gitelman merupakan penyakit tubular renal yang paling sering pada ras kaukasian, dengan prevalensi 1:40000. Gejala klinis berupa cepat lelah dan kelemahan umum, tetani, parestesia, poliuria, atau nokturia. Sindrom Gitelman berat dapat berupa perubahan status mental, kejang, rabdomiolisis, kondrokalsinosis, dan aritmia ventrikel.  Telah dilaporkan pasien laki-laki usia 19 tahun  dengan keluhan utama lemah pada keempat anggota gerak disertai kram dan kesemutan, poliuria, nokturia, sesak nafas, dan berdebar-debar. Pada pemeriksaan fisik ditemukan kekuatan motorik keempat ekstremitas menurun. Pemeriksaan penunjang  ditemukan kadar kalium serum 1,9 mmol/L, magnesium serum 1,5 g/dL, analisa gas darah kesan alkalosis metabolik, kalium urin 270 mmol/24 jam, magnesium urin 99,84 g/24 jam, kalsium urin 54,7 mg/24 jam, serta hitung transtubular K gradient sebesar 53,02. Terapi pada pasien adalah terapi substitusi dengan pemberian kalium intravena

Keywords


Sindrom Gitelman, hipokalemia, alkalosis metabolik, hipomagnesemia, hipokalsiuria

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References


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DOI: http://dx.doi.org/10.32883/hcj.v5i2.731

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