Treatment of Rickets in Autosomal-Recessive Hypophosphatemic Rickets Type 1 (DMP1 Gene Mutation)

Clinical Scenario

This protocol applies to patients with rickets arising from autosomal-recessive hypophosphatemic rickets type 1 (ARHR1), a rare hereditary disorder caused by loss-of-function mutations in the DMP1 gene (dentin matrix protein 1).

Treatment Approach

The management strategy involves a combination of phosphate supplementation and an active vitamin D analog — the specific agents, sequencing, and monitoring parameters are defined in the full structured protocol.

Treatment goals: Normalization of serum alkaline phosphatase and improvement of rickets.
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References

DOI: 10.1007/s00467-022-05505-5

Treatment with phosphate supplementation and active vitamin D was shown to improve rickets and normalize serum ALP levels in patients with ARHR1 which is due to mutations in the dentin matrix protein 1 (DMP1) gene.

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