A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate
Journal of Korean Medical Science
;
: 1237-1240, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-187238
ABSTRACT
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Peptídeos
/
Fatores de Transcrição
/
Ventiladores Mecânicos
/
Análise de Sequência de DNA
/
Proteínas de Homeodomínio
/
Povo Asiático
/
Alelos
/
República da Coreia
/
Genótipo
/
Hipoventilação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Masculino
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2010
Tipo de documento:
Artigo
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