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.
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References
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Kumagai, H., Matsumoto, S. & Nozu, K. Hypokalemic rhabdomyolysis in a child with Gitelman’s syndrome. Pediatr Nephrol 25, 953–955 (2010). https://doi.org/10.1007/s00467-009-1412-6
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DOI: https://doi.org/10.1007/s00467-009-1412-6