...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Neurosurgical focus >Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series
【24h】

Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series

机译：先天性低磷酸盐血症的酶替代疗法可用于手术治疗相关的复杂颅突积水：一个病例系列

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Hypophosphatasia (HPP) is a rare inherited disorder of bone metabolism that results in the loss of function of the gene coding for tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease. Traditionally, HPP has had a poor prognosis, with few children surviving to exhibit the phenotype of clinical craniosynostosis that requires surgical intervention. Here, the authors report on new advancements in enzyme replacement therapy (ERT) for children affected by HPP, allowing these patients to survive and undergo surgery to address complex craniosynostosis. The authors discuss their case series of 4 HPP patients treated at their institution with ERT who have undergone successful surgical intervention for craniosynostosis. These children had no complications related to their surgeries and exhibited decreased neurological symptoms following cranial vault remodeling. This study reveals that ERT administered either pre- or post-operatively paired with cranial vault remodeling strategies can yield improved neurological outcomes in children affected by HPP.
机译：低磷血症（HPP）是一种罕见的遗传性骨代谢疾病，会导致组织非特异性碱性磷酸酶（TNSALP）编码基因的功能丧失。 HPP患者的骨矿化不良和颅突狭窄，可在该疾病的婴儿期和儿童期发现。传统上，HPP的预后很差，幸存的儿童很少表现出需要手术干预的临床颅脑前突表型。在这里，作者报告了针对受HPP影响的儿童的酶替代疗法（ERT）的新进展，这些疗法使这些患者得以生存并接受手术治疗复杂的颅突。作者讨论了他们在其机构接受ERT治疗的4例HPP患者的病例系列，这些患者均已成功进行了颅前突手术治疗。这些儿童没有与手术相关的并发症，并且在颅穹改建后表现出减少的神经系统症状。这项研究表明，在术前或术后与颅穹改建策略配合使用的ERT可以改善HPP患儿的神经功能。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号