An 8-year-old Japanese boy presented with a generalized convulsion. He had
hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic
alkalosis (BE 5.7 mmol/L). In addition, his plasma
renin activity was elevated. He was tentatively diagnosed with
epilepsy on the basis of the electroencephalogram findings and was treated by
potassium L-aspartate and
carbamazepine to control the
hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of
Gitelman syndrome (GS) was then made and the patient's peripheral blood mononuclear cells were subjected to sequence analysis of the SLC12A3 gene, which encodes a
thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent
hypokalemia and metabolic
alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms.