中国实用儿科杂志

中国实用儿科杂志

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以骨病为主要特征的遗传代谢病

  

  1. 广州市妇女儿童医疗中心遗传内分泌科， 广东   广州  510623
  • 出版日期:2017-09-06 发布日期:2017-09-11

Inborn errors of metabolisms characterized by bone diseases

  1. Department of Genetics and Endocrinology，Guangzhou Women’s and Children’s Medical Center，Guangzhou  510623，China
  • Online:2017-09-06 Published:2017-09-11

摘要：

遗传代谢病是一组罕见的单基因遗传病, 多为常染色体隐性遗传，多达750余种,可累及全身各个系统。该文重点介绍了以代谢性骨病为特征、 相对常见且治疗后有一定疗效的遗传代谢病， 主要涉及遗传性钙、 磷、 维生素D、 甲状旁腺激素、 碱性磷酸酶、 溶酶体等代谢异常， 临床表现为难治性佝偻病、 骨软化、 骨质疏松、 骨硬化、 骨浸润等。

关键词: 遗传代谢病, 骨病, 诊断, 治疗

Abstract:

Inborn errors of metabolism（IEM） are rare conditions that represent more than 750 diseases. Most are inherited as an autosomal recessive trait. In this article we document the IEM characterized by bone metabolism disorders in children，focusing on more common and treatable conditions，such as richets，osteomalacia，osteoporosis and osteopetrosis. Most of these conditions involve metabolic disorders of calcium，phosphate，vitamin D，PTH，alkaline phosphatase and lysosomal.

Key words: inborn errors of metabolism, bone disease, diagnosis, treatment