Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review

source extracted confidence: high 2026-04-09
#child-preschool #humans #male #cholecalciferol #cytochrome-p-450-cyp3a

Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review

Mantoanelli et al., 2023 | Calcif Tissue Int | Systematic Review

Citation

Mantoanelli Lucas, de Almeida Camila Medeiros, ... Bordallo Ana Paula. Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review. Calcif Tissue Int. 2023-Apr;112(4):512-517. doi:10.1007/s00223-022-01051-2

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.

Key Findings

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.

Outcomes Measured

  • Requires manual extraction

Population

Field Value
Population See abstract
Sample Size See abstract
Age Range See abstract
Condition deficiency

MeSH Terms

  • Child, Preschool
  • Humans
  • Male
  • Cholecalciferol
  • Cytochrome P-450 CYP3A
  • Rickets
  • Vitamin D
  • Vitamin D Deficiency

Evidence Classification

  • Level: Systematic Review
  • Publication Types: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Systematic Review
  • Vertical: vitamin-d

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09