Q:

Describe the pathophysiology 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.

Describe the pathophysiology of hypophosphatemic rickets.

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The main pathology is hypophosphatemia either due to dietary phosphate deficiency or due to renal phosphate wasting due to elevated phosphatonins which could be due to inherited genetic defects, or acquired due to tumors or medications.

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