A 13 YEAR OLD GIRL WITH MUSCLE WEAKNESS AND VENTRICULAR TACHYCARDIA

Abstract

ABSTRACT Gitelman's syndrome is characterized by hypokalemia, hypomagnesemia and hypocalciuria. It is an autosomal recessive renal disorder and mostly present with asymptomatic hypokalemia but muscle cramps, dizziness, fatigue, muscle weakness and arrhythmias are the usual presentation. Same is the case with us, young girl presented with multiple symptoms and arrhythmia was worked up for electrolyte imbalance. Long term prognosis in terms of maintaining growth, renal function and life expectancy is excellent. Family screening is important for its early detection and treatment. This needs future genetic studies. INTRODUCTION Gitelman's syndrome (GS) is a autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia and hypocalciuria. As compared to bartter 1 syndrome(BS), patients with GS presents usually at an older age.Treatment of GS consists of potassium and magnesium salt replacement. Long term prognosis in 7,8 terms of maintaining growth, renal function and life expectancy is excellent. DISCUSSION Bartter syndrome and Gitelman syndrome usually presents with complaints of constipation, fatigue, dizziness, musclecramps and weakness, secondar y to chronic hypokalemia.8,9 In conclusion Gitelman's syndrome is not a straightforward diagnosis due to its phenotypic variance with Barter's syndrome. It is a rare disease but still exists. Family screening is really important which needs further genetic studies.