pediatrics
Hypophosphatemic Rickets
Introduction
Hypophosphatemic rickets is a genetic disorder characterized by hypophosphatemia, defective intestinal absorption of calcium, and rickets or osteomalacia unresponsive tovitamin D. It is usually hereditary. Symptoms are bone pain, fractures, and growth abnormalities. Diagnosis is by serum phosphate, alkaline phosphatase, and 1,25-dihydroxyvitamin D3 levels. Treatment is oral phosphate pluscalcitriol;burosumabis given for X-linked hypophosphatemia. Familial hypophosphatemic rickets is usually inherited as an X-Linked Dominant ; other familial patterns occur but are rarer ( Sporadic acquired cases sometimes are caused by benign mesenchymal tumors that produce a humoral factor that decreases proximal renal tubular resorption of phosphate (tumor-induced osteomalacia). 