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INTRODUCTION: The X-linked hypophosphatemic rickets is considered the most common cause of rickets. It is an X-linked dominant disease, caused by a PHEX gene mutation. It is believed that the biochemical and bone mineralization changes because of the increase of phosphaturic factor, resulting from the PHEX genes inability to inactivate its substrate. CASE REPORT: A seven-year and eleven-month-old girl has been followed by an orthopedist since she was 1 year old, due to lower limb deformity. She was referred to a pediatric endocrinologist for further evaluation. At clinical examination, the patient presented genu varum and Z score of stature/age = 4.8. Laboratory tests: serum phosphorus = 2.3mg/dl (4.5-6.6), ionic calcium = 1,8mmol/l (1.17-1.32), parathyroid hormone = 42pg/ml (12-88), alkaline phosphatase = 600U/L ( |
