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Scholars Journal of Applied Medical Sciences | Volume-6 | Issue-12
Gitelman's Syndrome–Salt Wasting Nephropathy: An Inherited Kidney Disease
Lahoor Basha Shaik, Bhargavi Kaliki , Devasree Shamakuri, Sathish Kumar Reddy Donapati
Published: Dec. 30, 2018 | 147 186
DOI: 10.36347/sjams.2018.v06i12.036
Pages: 4812-4815
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Abstract
Gitelman’s syndrome (GS) is a rare genetic disorder and also known as familial hypokalemia-hypomagnesemia with low urinary calcium excretion. This defect impairs the kidney’s ability to reabsorb salt and causes changes in various electrolyte concentrations, the electrolytes affected are primarily mineral ions, specifically potassium, calcium, magnesium, sodium, and chloride. The severity and symptoms of the disorder can vary greatly from one person to another and can range from mild to severe, even vary greatly among members of the same family. Transitory episodes of muscle weakness and tetany, periodically followed by abdominal pain, vomiting and fever are usually seen in GS patients. Here we describing a case of 28 years female patient who presented with weakness, muscle cramps, palpitations, constipation, and increased frequency of urine output, multiple episodes of vomitings, eventually the diagnosis of Gitelman’s syndrome was established.