X-Linked Hypophosphataemic Rickets — RACP Paediatrics MCQ

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HardEndocrinologyX-Linked Hypophosphataemic RicketsRACP Paediatrics

Bowed legs, short stature, low phosphate, elevated ALP. Underlying defect?

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Correct answer: D — Renal phosphate wasting from PHEX mutation and excess FGF23

PHEX mutation → excess FGF23 → renal phosphate wasting. Burosumab available.

Reference: RCH Melbourne – 2024