Review Question - QID 6083

The radiograph shows multiple wide physes, consistent with a diagnosis of rickets. A low serum phosphorous level and an elevated alkaline phosphatase level are the hallmarks in diagnosing familial hypophosphatemic Vitamin D-resistant rickets. Serum calcium is usually normal or low normal. This disease is inherited as an X-linked dominant trait and usually presents at age 18 to 24 months. The disease results from a poorly defined problem with renal phosphate transport in which normal dietary intake of vitamin D is insufficient to achieve normal bone mineralization. Renal tubular dysfunction is associated with urinary phosphate wasting. Treatment involves oral phosphate supplementation, which can cause hypocalcemia and secondary hyperparathyroidism. To prevent associated problems, high doses of Vitamin D are administered. While obtaining a scanogram may be clinically indicated in an associated limb-length discrepancy, and subsequent corrective surgery may be indicated, either of these choices would not be the first course of action. An orthosis may slow the progression of genu varum in this disorder but is less important than establishing the correct diagnosis to begin pharmacologic treatment. This amount of varum and tibial bowing far exceeds the normal limits of physiologic genu varum. Skeletal dysplasias usually are not associated with abnormal laboratory values.