Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A

  • Han, Ji-Yeon (Department of Pediatrics, Konyang University College of Medicine) ;
  • Kim, June-Bum (Department of Pediatrics, Konyang University College of Medicine)
  • 투고 : 2011.04.05
  • 심사 : 2011.07.06
  • 발행 : 2011.11.15
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초록

Familial hyperkalemic periodic paralysis (HYPP) is an autosomal-dominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene $SCN4A$ have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the $SCN4A$ gene leading to a Thr704Met mutation in the protein sequence. The parents were clinically unaffected and did not have a mutation in the $SCN4A$ gene. A $de$ $novo$ $SCN4A$ mutation for familial HYPP has not previously been reported. The patient did not respond to acetazolamide, but showed a marked improvement in paralytic symptoms upon treatment with hydrochlorothiazide. The findings in this case indicate that a $de$ $novo$ mutation needs to be considered when an isolated family member is found to have a HYPP phenotype.

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참고문헌

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피인용 문헌

  1. Treatment and Management of Neuromuscular Channelopathies vol.16, pp.10, 2011, https://doi.org/10.1007/s11940-014-0313-6
  2. Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and par vol.3, pp.9, 2011, https://doi.org/10.1242/bio.20148003
  3. Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review vol.2020, pp.None, 2020, https://doi.org/10.1155/2020/8843410