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.