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

Laila Füchtbauer; Klaus Brusgaard; Pål Ledaal; Morten Frost; Anja L Frederiksen

doi:10.1002/ccr3.406

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

Clin Case Rep. 2015 Nov 5;3(12):1012-6. doi: 10.1002/ccr3.406. eCollection 2015 Dec.

Authors

Laila Füchtbauer¹, Klaus Brusgaard², Pål Ledaal³, Morten Frost⁴, Anja L Frederiksen²

Affiliations

¹ Department of Endocrinology Sahlgrenska Universitetssjukhuset Gothenburg Sweden.
² Department of Clinical Genetics Odense University Hospital Odense Denmark.
³ Pediatric Department Sygehus Sønderjylland Sønderborg Denmark.
⁴ Department of Endocrinology M Odense University Hospital Odense Denmark.

Abstract

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.

Keywords: Bone mineral density; CYP27B1; HR‐pQCT; Pseudo‐vitamin D deficiency rickets; Vitamin D‐dependent rickets type 1.

Publication types

Case Reports