Q:

What is the approach to treatment of hypophosphatemic rickets?

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An 8-year-old male presents with concern for bilateral genu valgum deformity and complaint of pain in both lower limbs on walking or running. Parents note that he has always been the shortest boy in his class at school and his complaints of pain on walking and lower limb deformity have developed and progressed over the past six months. Patient and parents deny any trauma, and there is no history of fractures. Patient does not have any alopecia, or dental problems such as discoloration or abscesses. Patient has a history of polyuria and primary nocturnal enuresis.

What is the approach to treatment of hypophosphatemic rickets?

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Activated vitamin D calcitriol dosage of 20–30 ng/kg/day in 2–3 divided doses and an elemental phosphorus dose of 20–40 mg/kg/day (in 3–5 divided doses). Higher doses may be required at treatment initiation with periodic follow-up and dose titration. Patient needs to be monitored for nephrocalcinosis, hypercalciuria, and hyperparathyroidism.

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