Gitelman's syndrome.

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; 57:211-2.
Source: PubMed

ABSTRACT 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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    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.
    Indian Journal of Nephrology 10/2011; 21(4):289-92.
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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.
    Indian Journal of Nephrology 01/2014; 24(1):60-2.