Q:

Describe the pathophysiology and management in renal 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 and management in renal rickets.

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Many of the disorders leading to hypophosphatemia and renal tubular acidosis involve renal tubular defects. An other form of metabolic bone disease is associated with chronic kidney disease (CKD), previously termed renal osteodystrophy. Bone abnormalities in CKD include:

• High bone turnover disease related to secondary hyperparathyroidism

• Low turnover disease or adynamic bone disease.

The hyperphosphatemia, uremia and acidosis due to CKD leads to a cascade of events leading to deficiency of calcitriol and secondary hyperparathyroidism. Treatment involves administration of activated form of vitamin D (calcitriol) 0.01–0.05 μg/kg/day, dietary phosphorus restriction and use of phosphorus binders to decrease absorption of phosphorus, correction of acidosis. Follow-up of clinical case: Based on the finding of low serum bicarbonate with elevated urinary pH, with nephrocalcinosis, a diagnosis of distal renal tubular acidosis is made. Patient is started on sodium citrate solution, to treat the metabolic acidosis with close follow-up growth and bone deformities.

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