Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
Calcif Tissue Int
; 112(4): 512-517, 2023 04.
Article
em En
| MEDLINE
| ID: mdl-36656330
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Raquitismo
/
Deficiência de Vitamina D
Tipo de estudo:
Systematic_reviews
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article