维生素D依赖性佝偻病IA型1例并文献复习

李土凤, 黄宇戈, 张慧琼, 李妙芬

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (5) : 577-578.

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PDF(617 KB)
中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (5) : 577-578. DOI: 10.11852/zgetbjzz2018-0987
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维生素D依赖性佝偻病IA型1例并文献复习

  • 李土凤, 黄宇戈, 张慧琼, 李妙芬
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李土凤, 黄宇戈, 张慧琼, 李妙芬. 维生素D依赖性佝偻病IA型1例并文献复习[J]. 中国儿童保健杂志. 2019, 27(5): 577-578 https://doi.org/10.11852/zgetbjzz2018-0987
中图分类号: R723   

参考文献

[1] 李云斐,陈瑞敏,袁欣,等.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[J]. 临床儿科杂志,2015,33(12):1001-1005.
[2] 刘芳,麻宏伟,马健,等.维生素D依赖性佝偻病Ⅰ型1例[J].中国实用儿科杂志,2010,25(1):75-76.
[3] Tahir S,Demirbilek H,Ozbek MN,et al.Genotype and phenotype characteristics in 22 patients with vitamin D-dependent rickets type I[J]. Horm Res Paediatr,2016,85(5):309-17.
[4] Babiker AM,Gadi IA,Al-Jurayyan NA,et al.A novel pathogenic mutation of the CYP27B1 gene in a patient with vitaminD-dependent rickets type 1:a case report[J]. BMC Res Notes,2014,7:783.
[5] Prader AR, Illig R,Heierli E.An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission:hereditary pseudo-deficiency rickets[J].Helv Paediatr Acta,1961,16:452-68.
[6] Demir K,Kattan WE,Zou M,et al.Novel CYP27B1 gene mutations in patients with vitamin D-dependent rickets type 1A[J]. PLoS One,2015,10(7):e0131376.
[7] 麻宏伟.表现为类佝偻病的遗传性疾病[J]. 中国当代儿科杂志,2013,15(11):923-927.
[8] Acar S,Demir K,Shi Y,Genetic causes of rickets[J]. J Clin Res Pediatr Endocrinol,2017,9(Suppl 2):88-105.
[9] Thacher TD,Fischer PR,Singh RJ,et al.,CYP2R1 mutations impair generation of 25-hydroxyvitamin D and causean atypical form of vitamin D deficiency[J]. J Clin Endocrinol Metab,2015,100(7):E1005-E1013.
[10] 陈晓阳,赵正言.维生素 D 依赖性佝偻病[J]. 中国儿童保健杂志,2017,25(5):478-480.
[11] 李振彪,张继要,董伟,等.家族性低磷性抗维生素 D 佝偻病 4 个家系 PHEX、FGF-23、DMP-I 基因突变分析[J]. 中华实用儿科临床杂志,2015,30(20):1549-1553.
[12] Miller WL.Genetic disorders of Vitamin D biosynthesis and degradation[J]. J Steroid Biochem Mol Biol,2017,165(PtA):101-108.
[13] Alzahrani AS,Zou M,Baitei ZY,et al.A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1[J]. J Clin Endocrinol Metab,2010,95(9):4176-4183.

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