Treatment of Rickets in Autosomal-Dominant Hypophosphatemic Rickets (ADHR) with FGF23 Mutation

Clinical Scenario

This protocol applies to rickets occurring in the context of autosomal-dominant hypophosphatemic rickets (ADHR). The condition arises from mutations in FGF23 that impair normal FGF23 degradation, leading to persistently elevated FGF23 activity and FGF23-driven renal phosphate wasting.

ADHR FGF23 mutation Impaired FGF23 degradation Renal phosphate wasting

Treatment Approach

Management involves oral mineral supplementation combined with active vitamin D therapy, with dosing adapted to each patient's individual clinical and biochemical response — including assessment of a nutritional factor that influences FGF23 activity.

Treatment Goals

Normalisation of FGF23 levels
Improvement of serum phosphate levels
Normalisation of serum alkaline phosphatase

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References

DOI: 10.1007/s00467-022-05505-5

This condition is due to mutations in FGF23 resulting in impaired FGF23 degradation and consequently FGF23-driven renal phosphate wasting.
Patients with ADHR are usually treated with oral phosphate salts and active vitamin D, as with XLH patients.
However, the required dosages vary largely and need to be adapted according to clinical and biochemical response.
Iron repletion was shown to normalize previously elevated FGF23 levels and to improve serum phosphate levels in XLH patients.
Therefore, assessment and correction of any iron deficiency in ADHR patients is recommended.

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