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KMID : 1130320110540110470
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Korean Journal of Pediatrics
2011 Volume.54 No. 11 p.470 ~ p.472
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Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
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Han Ji-Yeon
Kim June-Bum
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Abstract
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Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant 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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KEYWORD
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Hyperkalemic periodic paralysis, Mutation, SCN4A
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