Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Hypokalemic periodic paralysis: two different genes responsible for similar clinical manifestations

  • Kim, Hun-Min (Department of Pediatrics, Seoul National University Bundang Hospital) ;
  • Hwang, Hee (Department of Pediatrics, Seoul National University Bundang Hospital) ;
  • Cheong, Hae-Il (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Park, Hye-Won (Department of Pediatrics, Seoul National University Bundang Hospital)
  • Received : 2011.02.09
  • Accepted : 2011.06.25
  • Published : 2011.11.15
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Abstract

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

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References

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