CYP27B1 酶突变与治疗概述：一例病例报告及文献综述
An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.
作者信息
Zamanfar Daniel, Ghazaiean Mobin
机构信息
Pediatric Endocrinologist, Diabetes Research Center of Mazandaran Mazandaran University of Medical Sciences Sari Iran.
Student Research Committee Mazandaran University of Medical Sciences Sari Iran.
出版信息
Clin Case Rep. 2023 Mar 4;11(3):e7007. doi: 10.1002/ccr3.7007. eCollection 2023 Mar.
Abstract
Vitamin D-dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha-hydroxylase. We report a known case of VDDRIA with hypotonia, growth and developmental disorders and discuss about the mutation and its management.
摘要
1型维生素D依赖性佝偻病（VDDRIA）是一种常染色体隐性疾病，由细胞色素P450家族27亚家族B成员1（CYP27B1）基因突变引起，该基因编码1α-羟化酶。我们报告了一例已知的VDDRIA病例，该病例伴有肌张力减退、生长发育障碍，并对其突变及治疗进行了讨论。
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