2006Indian journal of human geneticsRequires access

Gitelman′s syndrome

Nithyananda K. Chowta, Mukta N. Chowta

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Abstract

Classic Bartter’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with normocalciuria or hypercalciuria, a severe disorder and Gitelman’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder. It has been suggested that the antenatal and classic Bartter’s syndrome and Gitelman’s syndrome represent distinct variants of primary renal tubular hypokalemic metabolic alkalosis and are easily distinguished on the basis of urinary calcium levels. The Gitelman’s syndrome present during adolescence or adulthood, inherited as autosomal recessive traits. The dominant features are fatigue, weakness, hypocalciuria, hypomagnesemia with hypermagnesuria and normal prostaglandin production. We report here a patient who presented with features of Gitelman’s syndrome.

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What this paper is about

Classic Bartter’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with normocalciuria or hypercalciuria, a severe disorder and Gitelman’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder. It has been suggested that the antenatal and classic Bartter’s syndrome and Gitelman’s syndrome represent distinct variants of primary renal tubular hypokalemic metabolic alkalosis and are easily distinguished on the basis of urinary calcium levels. The Gitelman’s syndrome present during adolescence or adulthood, inherited as autosomal recessive traits. The dominant features are fatigue, weakness, hypocalciuria, hypomagnesemia with hypermagnesuria and normal prostaglandin production. We report here a patient who presented with features of Gitelman’s syndrome.

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Available abstract

Classic Bartter’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with normocalciuria or hypercalciuria, a severe disorder and Gitelman’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder. It has been suggested that the antenatal and classic Bartter’s syndrome and Gitelman’s syndrome represent distinct variants of primary renal tubular hypokalemic metabolic alkalosis and are easily distinguished on the basis of urinary calcium levels. The Gitelman’s syndrome present during adolescence or adulthood, inherited as autosomal recessive traits. The dominant features are fatigue, weakness, hypocalciuria, hypomagnesemia with hypermagnesuria and normal prostaglandin production. We report here a patient who presented with features of Gitelman’s syndrome.

Key concepts: Medicine

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