Gitelman syndrome with mental retardation: a case report.
Gitelman syndrome (GS), an inherited disorder due to loss of function in mutations of the gene encoding the distal convoluted tubule Na-Cl cotransporter (NCCT), is characterized by hypokalemia metabolic alkalosis, hypomagnesemia and hypocalciuria. A 18-year-old girl was admitted to our hospital with a history of muscle weakness and transient tetanic episodes affecting bilateral hands. Transient tetanic episodes had been noted over 2 years. The laboratory tests revealed hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. We started intravenous magnesium and potassium infusion. Tetanic episodes disappeared, but plasma levels of magnesium and potassium did not recover to normal range. On the fifth day, indomethacin and triamterene were administrated. On the seventh day, plasma levels of magnesium and potassium were normalized. The patient was discharged from the hospital.
Tuhta
Gonca Aylin
GA
Department of Internal Medicine, General Hospital of Siirt, Siirt, Turkey. atuhta@yahoo.com
Tuhta
Alparslan
A
Erdogan
Murat
M
D000293:Adolescent; D005260:Female; D053579:Gitelman Syndrome / Q000188:drug therapy* / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism*