Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation

被引：7

作者：

Fuchtbauer, Laila ^{[1
]}

Brusgaard, Klaus ^{[2
]}

Ledaal, Pal ^{[3
]}

Frost, Morten ^{[4
]}

Frederiksen, Anja L. ^{[2
]}

机构：

[1] Sahlgrenska Univ, Dept Endocrinol, Gothenburg, Sweden

[2] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark

[3] Sygehus Sonderjylland, Dept Pediat, Sonderborg, Denmark

[4] Odense Univ Hosp, Dept Endocrinol M, DK-5000 Odense, Denmark

来源：

CLINICAL CASE REPORTS | 2015年 / 3卷 / 12期

关键词：

Bone mineral density; CYP27B1; HR-pQCT; Pseudo-vitamin D deficiency rickets; Vitamin D-dependent rickets type 1;

D O I：

10.1002/ccr3.406

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message Vitamin D-dependent rickets type 1 VDDR-1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long-time follow-up of a case with a novel mutation including high-resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype.

引用

页码：1012 / 1016

页数：5

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