Department of General Medicine, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.The Journal of the Association of Physicians of India 04/2009; 57(3):211-2.
We report a case of 30 year old male who presented with alleged history of consumption of organophosphorus compound. During stay in hospital, he was found to be persistently hypokalemic and low in magnesium. Subsequently with detailed clinical and laboratory evaluation, he was diagnosed to be having Gitelman's syndrome. He was discharged on potassium and magnesium supplements along with potassium sparing diuretics.
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- "The only two other case reports from India did not make use of the renal clearance studies used in this article. To the best of our knowledge, this is probably the first reported case of Gitelman's syndrome in India, where these two simple techniques have been used to localize the site of the renal tubular defect and to confirm the diagnosis. "
ABSTRACT: Gitelman's syndrome is a rare autosomal recessive, renal tubular disorder, characterized by chronic hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and normal blood pressure. Patients usually present at a later age with episodic mild muscle weakness. Unexplained hypokalemia arouses suspicion. The diuretic loading test with furosemide and thiazide and the use of Bartter's normogram provides a practical and simple tool in comparison to the complex and costly genetic analysis, to confirm the diagnosis. Here we report a case of Gitelman's syndrome to show the utility of these simple techniques to explain the pathophysiology of the disease, as well as to localize the site of the renal tubular defect, to confirm the diagnosis.
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ABSTRACT: Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman's syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT) in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman's syndrome in a four-year-old boy with growth retardation.
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