Gitelman's Syndrome Presenting with Hypocalcaemia - A Case Report

Cader, F.A.; Kabir, A.; Mayedah, R.; Masud, M.S.; Quadir, F.; Hossen, M.N.

Mymensingh Medical Journal Mmj 24(2): 411-415

2015


ISSN/ISBN: 1022-4742
PMID: 26007276
Document Number: 679220
Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by severe hypomagnesaemia, hypokalaemia, metabolic alkalosis and hypocalcaemia. It is caused by defective NaCl transport in the Distal Convoluted Tubule and presents in adolescence or adulthood, with a distinctly more benign course than Bartter's Syndrome. The dominant clinical features are muscle weakness, fatigue, carpopedal spasm, cramps and tetany. We report the case of a 26 year old male who presented with flaccid quadriparesis and carpopedal spasms, hypokalaemia, hypomagnesaemia, hypocalcaemia and severe urinary magnesium wasting. He was treated with potassium and magnesium supplementation and regained full function of all limbs.

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