Hypokalemic rhabdomyolysis in a child with Gitelman's syndrome

Pediatr Nephrol. 2010 May;25(5):953-5. doi: 10.1007/s00467-009-1412-6.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biomarkers / blood
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Female
  • Fluid Therapy
  • Gitelman Syndrome / complications
  • Gitelman Syndrome / diagnosis*
  • Gitelman Syndrome / genetics
  • Gitelman Syndrome / metabolism
  • Gitelman Syndrome / therapy
  • Humans
  • Hypokalemia / genetics*
  • Hypokalemia / metabolism
  • Hypokalemia / therapy
  • Magnesium / blood
  • Mutation
  • Potassium / blood
  • Potassium / therapeutic use
  • Receptors, Drug / genetics*
  • Receptors, Drug / metabolism
  • Rhabdomyolysis / genetics*
  • Rhabdomyolysis / metabolism
  • Rhabdomyolysis / therapy
  • Solute Carrier Family 12, Member 3
  • Symporters / genetics*
  • Symporters / metabolism
  • Treatment Outcome

Substances

  • Biomarkers
  • Receptors, Drug
  • SLC12A3 protein, human
  • Solute Carrier Family 12, Member 3
  • Symporters
  • Creatine Kinase
  • Magnesium
  • Potassium