维生素D依赖性佝偻病IA型两家系临床及分子遗传学研究  

Clinical and genetic analysis of vitamin D-dependent rickets type IA in two Chinese families

作　　者：李云斐 陈瑞敏[1] 袁欣[1] 林祥泉[1] 杨晓红[1] 张莹[1] 

机构地区：[1]福建省福州儿童医院内分泌科福建医科大学教学医院,福建福州350005 [2]湖北省十堰市东风公司总医院儿科湖北医药学院教学医院

出　　处：《临床儿科杂志》2015年第12期1001-1005,共5页Journal of Clinical Pediatrics

摘　　要：目的分析维生素D依赖性佝偻病IA型(VDDR-IA)的临床特征,及1α-羟化酶编码基因(CYP27B1)突变。方法回顾性分析2例VDDR-IA患儿的临床表现、实验室和影像学资料。对CYP27B1基因9个外显子及部分内含子相邻区域进行PCR扩增和DNA测序分析。结果两例女性患儿,分别为1岁10个月及2岁9个月,有典型的佝偻病体征、实验室及影像学表现。基因测序发现CYP27B1基因8号外显子上均存在纯合突变c.1319_1325dup CCCACCC。家系中多人为单一杂合突变。两例患儿均予口服骨化三醇及钙剂治疗,病情稳定,随访中。结论对于VDDR-IA病例应注意c.1319_1325dup CCCACCC纯合突变。Objective To analyze the clinical characteristics and CYP27B1 gene mutation vitamin D-dependent rickets type IA（VDDR-IA） in two Chinese families. Methods Clinical manifestations, laboratory data, and radiological findings were analyzed in two patients with VDDR-IA. Nine exons and intron-exon boundaries of CYP27B1 gene were amplified by PCR and sequenced. Results Two female patients（22 and 33 months of age, respectively） had typical manifestations, laboratory, and radiological findings of rickets. Genetic sequencing identified a homozygous mutation in exon 8 of CYP27B1 gene（1319_1325dup CCCACCC）. There were more than one person with single heterozygous mutation in two families. Two patients were treated with oral calcitriol and calcium. The condition were stable and continued follow up. Conclusions It is important to detection c.1319_1325dup CCCACCC homozygous mutation in VDDR-IA patient.

关 键 词：维生素D依赖性佝偻病IA型 1α-羟化酶编码基因 序列分析 家系 

分 类 号：R723[医药卫生—儿科]