Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation. Issue 12 (5th November 2015)

• Record Type: Journal Article
• Authors: Füchtbauer, Laila; Brusgaard, Klaus; Ledaal, Pål; Frost, Morten; Frederiksen, Anja L.
• Is Part Of: Clinical case reports. Volume 3:Issue 12(2015:Dec.)
• Page Start: 1012
• Page End: 1016
• Publication Date: 2015-11-05
• Subjects: Bone mineral density -- CYP27B1 -- HR‐pQCT -- Pseudo‐vitamin D deficiency rickets -- Vitamin D‐dependent rickets type 1; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.406
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.