This protocol covers rickets in the setting of vitamin D-dependent rickets type 3 (VDDR3), an ultra-rare condition caused by mutations in CYP3A4 that produce enhanced inactivation of calcitriol, the biologically active form of vitamin D.
Because the underlying defect accelerates calcitriol breakdown, management centres on supplementation with vitamin D at substantially elevated doses, alongside calcium supplementation. The specific agents, dose ranges, and monitoring framework are detailed in the full protocol.
DOI: 10.1007/s00467-022-05505-5
This ultra-rare condition is due to mutations in CYP3A4 leading to enhanced inactivation of calcitriol and was shown to respond to high doses of vitamin D3 or D2 as given in (Table 3).
This allows normocalcemia and normalization of serum phosphate, PTH, and ALP serum levels in these patients.
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