We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
- Authors
Mantoanelli, Lucas; de Almeida, Camila Medeiros; Coelho, Maria Caroline Alves; Coutinho, Marcelo; Levine, Michael A.; Collett-Solberg, Paulo Ferrez; Bordallo, Ana Paula
- Abstract
Although vitamin D deficiency resulting from insufficient sunlight exposure or inadequate dietary vitamin D intake is the most common cause of rickets, mutations in genes involved in vitamin D metabolism can cause genetic forms of rickets termed Vitamin D-Dependent Rickets (VDDR). In 2018, Roizen et al. described a new type of VDDR, named VDDR3, caused by a recurrent missense mutation in the CYP3A4 gene that leads to accelerated inactivation of vitamin D metabolites. Here, we describe the third case of VDDR3 due to the same CYP3A4 mutation in a 2-year-old boy with bone deformities associated with poor growth. As in the previously reported cases, this patient had no family history of rickets. Serial measurements of vitamin D metabolites after a single 150,000 IU dose of cholecalciferol demonstrated an accelerated inactivation of 25(OH)D and 1,25(OH)2D. Significant improvement in growth velocity and healing of bone deformities were achieved after a short period of treatment with 10.000 IU of cholecalciferol daily, showing the importance of early recognition and prompt precision therapy of this condition.
- Subjects
RICKETS; VITAMIN D deficiency; VITAMIN D metabolism; VITAMINS; MISSENSE mutation; VITAMIN D; CHOLECALCIFEROL
- Publication
Calcified Tissue International, 2023, Vol 112, Issue 4, p512
- ISSN
0171-967X
- Publication type
Article
- DOI
10.1007/s00223-022-01051-2