Hypophosphatemic vitamin D resistant rickets.
There is both an acquired and a congenital variant. The congenital form is inherited as an X-linked dominant trait with a phenotype of stunted growth, lower limb deformities, and the absence of enamel hypoplasia in the teeth. Acquired causes include insufficient phosphate intake, renal phosphate losses due to tumors, or altered renal tubular function. The pathologic hallmark is the accumulation of hypomineralized periosteocytic lesions.
In children aggressive phosphate replacement includes 1–3 grams elemental phosphorus per day in 4 to 5 divided doses. To avoid secondary hyperparathyroidism due to the accompanying calcium losses, 1,25 (OH)2 vitamin D3 is added at 30 to 70 ng/kg/day. In adults supplementation with 1,25 (OH)2 vitamin D3 is 1–2 mcg per day.
With aggressive phosphate supplementation and vitamin D in large doses, normal growth and adequate bone mineralization has been...
- Glorieux FH (1999) Hypophosphatemic vitamin D-resistant rickets. In: Favus MJ (ed.) Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 4th ed. Lippincott Williams & Wilkins, New York, pp 328–31Google Scholar