Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A / 소아과
Korean Journal of Pediatrics
;
: 470-472, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-139020
ABSTRACT
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Parálisis
/
Padres
/
Fenotipo
/
Sodio
/
Canales de Sodio
/
Músculo Esquelético
/
Parálisis Periódica Hiperpotasémica
/
Canalopatías
/
Hidroclorotiazida
/
Hiperpotasemia
Límite:
Adolescente
/
Humanos
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2011
Tipo del documento:
Artículo
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