Abstract

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.

Links

Publisher Full Text

Authors

Tuhta GA, Tuhta A, Erdogan M

Institution

Department of Internal Medicine, General Hospital of Siirt, Siirt, Turkey. atuhta@yahoo.com

Source

Journal of nephrology 23:5 pg 617-8

MeSH

Adolescent
Female
Gitelman Syndrome
Humans
Mental Retardation

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20658450