Rickets
ICD-10 E55.0 · ICD-11 5B57.0

Treatment of Rickets in Vitamin D-Dependent Rickets Type 2A (VDR Mutation / Impaired Vitamin D Receptor Signaling)

Vitamin D-dependent rickets type 2A (VDDR2A) presents a distinct clinical challenge: rickets driven not by vitamin D deficiency but by loss-of-function mutations in the VDR gene that impair vitamin D receptor signaling at the cellular level.

Clinical Scenario

Vitamin D-dependent rickets type 2A (VDDR2A) is due to mutations in VDR resulting in impaired signaling of the vitamin D receptor. Because the receptor itself is dysfunctional, the metabolic and skeletal consequences of rickets arise despite normal or elevated vitamin D levels, requiring a targeted treatment approach specific to this population.

Treatment Approach

Management centres on high-dose oral calcium supplementation as the primary intervention to restore normocalcemia, with intravenous calcium available when oral therapy proves insufficient — the complete regimen, sequencing, and longer-term strategy are contained in the full protocol.

Clinical Goals
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References

DOI: 10.1007/s00467-022-05505-5

Vitamin D-dependent rickets type 2A (VDDR2A) is due to mutations in VDR resulting in impaired signaling of the vitamin D receptor.

High oral doses of calcium (5-6 g/m2 body surface area of elemental calcium) are usually sufficient to restore normocalcemia and normalize PTH levels during the first few months of life in infants with VDDR2A. However, some patients require primary intravenous calcium infusions to adequately raise serum calcium.

During long-term follow-up, bone mineral density was shown to be normal and PTH levels could be kept close to the upper-normal range in the majority of VDDR2A patients.

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