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).
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.
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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