An Anesthetic Experience in a Patient with Menkes Disease: A case report / 대한마취과학회지
Korean Journal of Anesthesiology
;
: 672-675, 2007.
Artigo
em Coreano
| WPRIM
| ID: wpr-85180
ABSTRACT
Menkes disease, so-called kinky hair disease or steely hair disease, is a rare X-linked recessive disorder of intracellular copper transport protein ATP7A defect, due to mutation of ATP7A gene, resulting in copper deficiency. It is characterized by seizure, retarded neurological development, kinky hair, skeletal abnormality, recurrent infection and subnormal body temperature. In addition, gastroesophageal reflux with the risk of aspiration is another important feature. This article is the first report of anesthetic management in a patient with Menkes disease who underwent gastrostomy and bladder diverticulectomy in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Bexiga Urinária
/
Temperatura Corporal
/
Gastrostomia
/
Refluxo Gastroesofágico
/
Cobre
/
Cabelo
/
Síndrome dos Cabelos Torcidos
/
Coreia (Geográfico)
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Journal of Anesthesiology
Ano de publicação:
2007
Tipo de documento:
Artigo
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