pediatrics
Hypophosphatemic Rickets
Key Points
Decreased renal resorption of phosphate results in renal phosphate wasting and hypophosphatemia. There is deficient bone mineralization due to low phosphate levels and osteoblast dysfunction. Children have growth retardation, bone pain and deformities (eg, leg bowing), and short stature. Patients with hypophosphatemic rickets with hypercalciuria (HHRH) may present with nephrolithiasis and/or nephrocalcinosis. Diagnose by finding low serum phosphate levels, elevated urinary phosphate, and normal serum calcium andparathyroid hormone. Treat with oral phosphate supplements and, except for HHRH,vitamin D(given ascalcitriol). Useburosumabfor X-linked hypophosphatemia. 