Portal de investigação
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review
Data de publicação:
Data Ahead of Print:
Autores da FMUP
Participantes de fora da FMUP
- Mantoanelli, Lucas
- de Almeida, Camila Medeiros
- Coutinho, Marcelo
- Levine, Michael A.
- Collett-Solberg, Paulo Ferrez
- Bordallo, Ana Paula
Unidades de investigação
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.
Dados da publicação
- ISSN/ISSNe:
- 1432-0827, 0171-967X
- Tipo:
- Article
- Páginas:
- 512-517
- PubMed:
- 36656330
Calcified Tissue International Springer New York
Citações Recebidas na Web of Science: 9
Documentos
- Não há documentos
Filiações
Keywords
- Rickets; Vitamin D; Vitamin D-dependent rickets
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Citar a publicação
Mantoanelli L,de Almeida CM,Coelho MCA,Coutinho M,Levine MA,Collett PF,Bordallo AP. Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review. Calcif Tissue Int. 2023. 112. (4):p. 512-517. IF:4,200. (2).
