phosphate supplementation + active vitamin D

This combination therapy consists of oral phosphate supplementation and active vitamin D analogs, such as calcitriol or alfacalcidol. It is the traditional standard of care for patients with hypophosphatemic rickets, particularly X-linked hypophosphatemia (XLH) caused by mutations in the PHEX gene. Phosphate supplementation directly replaces the phosphate lost through renal wasting, while active vitamin D is required to counteract the secondary hyperparathyroidism induced by phosphate therapy and to compensate for the impaired 1-alpha-hydroxylation of vitamin D characteristic of the disease. The goal of treatment is to improve growth, heal rickets, and normalize biochemical markers, although it does not address the underlying pathophysiology of elevated FGF23 levels.

Other names

conventional therapy for XLHphosphate and calcitriolphosphate and alfacalcidolstandard therapy for hypophosphatemic rickets