title: Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene.
abstract: 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.
authors.affiliation: Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Makino
authors.affiliation: Department of Pediatrics, Hokkaido Graduate School of Medicine, Sapporo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tajima
authors.affiliation: Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Shinozuka
authors.affiliation: Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
authors.forename: Aki
authors.initials: A
authors.lastname: Ikumi
authors.affiliation: Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Awaguni
authors.affiliation: Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
authors.forename: Shin-Ichiro
authors.initials: S
authors.lastname: Tanaka
authors.affiliation: Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
authors.forename: Rikken
authors.initials: R
authors.lastname: Maruyama
authors.affiliation: Division of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto 611-0042, Japan.
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Imashuku