This protocol addresses hypophosphatemic rickets arising from renal phosphate wasting in patients with fibrous dysplasia caused by an activating GNAS gene mutation — the hallmark of McCune-Albright syndrome.
Fibrous dysplasia driven by activating GNAS mutations (McCune-Albright syndrome) can lead to hypophosphatemic rickets through renal phosphate wasting. Management of this population primarily addresses non-rickets complications of fibrous dysplasia, but the rickets component requires specific treatment when present.
An established initial approach involves oral phosphate supplementation combined with an active vitamin D analogue; the full protocol specifies when and how to escalate beyond this first-line strategy.
DOI: 10.1007/s00467-022-05505-5
Treatment of patients with fibrous dysplasia (FD), which is due to activating mutations in the GNAS gene causing McCune-Albright syndrome primarily focuses on non-rickets complications.
Treatment with phosphate salts and active vitamin D may be considered in patients presenting with hypophosphatemic rickets due to renal phosphate wasting.
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