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  • 标题:An Anesthetic Experience in a Patient with Menkes Disease - A case report -
  • 本地全文:下载
  • 作者:Shinn, Helen Ki ; Lee, Hong Sik ; Cha, Young Deog
  • 期刊名称:Korean Journal of Anesthesiology
  • 印刷版ISSN:2005-6419
  • 出版年度:2007
  • 卷号:53
  • 期号:5
  • 页码:672-675
  • DOI:10.4097/kjae.2007.53.5.672
  • 语种:Korean
  • 出版社:The Korean Society of Anesthesiologists,
  • 摘要:

    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.

  • 关键词:copper deficiency; copper-dependent enzyme; kinky hair disease; Menkes disease
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