ABSTRACT Introduction: Gitelman's syndrome is an infrequent tubulopathy, transmitted by autosomal recessive inheritance due to mutations of the SLC12A3 gene, which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule. This tubulopathy is characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. Signs and symptoms are avid for salty foods, normal or low blood pressure, physical exercise intolerance, growth retardation, and short stature. Case Description: An 11-year-old male patient who presented weakness of upper and lower limbs on admission associated with muscle weakness. The physical examination of income is normal. Initial laboratory tests showed serum potassium of 2.8 mEq / L sodium of 132 mEq / L, chlorine of 84.26 mEq / L, magnesium of 1.4 mEq / L, calcium of 11.3 mEq / L. Venous gasometry at pH 7.42, pCO2, 34.1mm...

ABSTRACT Introduction: Gitelman's syndrome is an infrequent tubulopathy, transmitted by autosomal recessive inheritance due to mutations of the SLC12A3 gene, which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule. This tubulopathy is characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. Signs and symptoms are avid for salty foods, normal or low blood pressure, physical exercise intolerance, growth retardation, and short stature. Case Description: An 11-year-old male patient who presented weakness of upper and lower limbs on admission associated with muscle weakness. The physical examination of income is normal. Initial laboratory tests showed serum potassium of 2.8 mEq / L sodium of 132 mEq / L, chlorine of 84.26 mEq / L, magnesium of 1.4 mEq / L, calcium of 11.3 mEq / L. Venous gasometry at pH 7.42, pCO2, 34.1mm...