| 摘要: |
| 细胞色素P450 氧化还原酶缺陷症(cytochrome P450oxidoreductase deficiency,PORD) 是一种较罕见的常染色体隐性遗传病,典型表现包括类固醇合成异常、两性畸形
及Antley鄄Bixler 综合征(Antley鄄Bixler syndrome,ABS)样骨骼畸形等 。细胞色素P450 氧化还原酶(cytochrome P450 oxidoreductase, POR) 可作为细胞色素P450 酶(cytochrome P450,CYP)的电子转运体,参与类固醇激素的合成等。PORD 可导致性激素和糖皮质激素合成障碍,因此它属于先天性肾上腺皮质增生症(ongenital adrenal hyperplasia,CAH)的一种亚型 。本文汇总了常见POR 基因突变类型、体外功能研究及临床病例,并从分子水平到疾病诊疗等方面介绍PORD的研究进展. |
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| DOI：10.13407/j.cnki.jpp.1672-108X.2020.03.017 |
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| 基金项目: |
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| Progress of Cytochrome P450 Oxidoreductase Deficiency |
| Bai Hualei, Zhu Min |
| (Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China) |
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