title: Hypokalemic rhabdomyolysis in a child with Gitelman's syndrome.
abstract: We report here the first published case of a pediatric patient with Gitelman's syndrome (GS) in whom hypokalemia-associated rhabdomyolysis developed. A 13-year-old girl was admitted with weakness of the extremities, walking difficulty and calf pain. Laboratory data showed a serum potassium level of 2.1 mmol/l and a serum creatinine phosphokinase level of 1,248 IU/l plus myoglobinemia. The presence of normomagnesemia was the basis for a genetic analysis of the thiazide-sensitive sodium chloride cotransporter gene, which revealed compound heterozygous mutations in this gene. Prompt fluid expansion and potassium supplementation led to regression of the muscle symptoms. Hypokalemia can be a rare cause of rhabdomyolysis in patients with GS, even in childhood. We emphasize that genetic analysis is advisable to determine whether the suspicion of GS is warranted.
authors.affiliation: Department of Pediatrics, Hitachiomiya Saiseikai Hospital, Hitachiomiya, Ibaraki, Japan. h-kumagai@ho-saisei.jp
authors.forename: Hideki
authors.initials: H
authors.lastname: Kumagai
authors.forename: Shizuko
authors.initials: S
authors.lastname: Matsumoto
authors.forename: Kandai
authors.initials: K
authors.lastname: Nozu
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D005440:Fluid Therapy; D053579:Gitelman Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D007008:Hypokalemia / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D008274:Magnesium / Q000097:blood; D009154:Mutation; D011188:Potassium / Q000097:blood / Q000627:therapeutic use; D011955:Receptors, Drug / Q000235:genetics* / Q000378:metabolism; D012206:Rhabdomyolysis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics* / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; D003402:Creatine Kinase; D008274:Magnesium; D011188:Potassium