pediatrics
Hypophosphatemic Rickets
Symptoms and Signs of Hypophosphatemic Rickets
The disease manifests as a spectrum of abnormalities, from hypophosphatemia alone to growth retardation and short stature to severe rickets or osteomalacia. Children usually present after they begin walking, with bowing of the legs and other bone deformities, pseudofractures (ie, x-ray findings in osteomalacia that may represent areas of prior stress fractures that have been replaced by inadequately mineralized osteoid vs areas of bony erosions), bone pain, and short stature. Bony outgrowth at muscle attachments may limit motion. Rickets of the spine or pelvis, dental enamel defects, and tetany that occur in dietaryvitamin Ddeficiency are rarely present in hypophosphatemic rickets. Patients with HHRH may present with nephrolithiasis and/or nephrocalcinosis. 