Autonomous hyperparathyroidism in vitamin D-resistant rickets is very rare. A 15-year-old girl with vitamin D-resistant rickets developed persistent hypercalcemia, hypertension, and inability to concentrate urine. Serum parathormone levels were elevated and were not substantially suppressed by calcium infusion. The renal tubular defect in phosphate reabsorption was unaltered during hyperparathyroidism and after removal of 3¾ of the parathyroid glands. The surgical specimen showed two parathyroid adenomas that were confirmed histologically. These findings support the concept that the primary defect in this disease is in renal tubular reabsorption of phosphate.
Talwalkar YB, Musgrave JE, Buist NRM, Campbell RA, Campbell JR. Vitamin D-Resistant Rickets and Parathyroid AdenomasRenal Transport of Phosphate. Am J Dis Child. 1974;128(5):704–708. doi:10.1001/archpedi.1974.02110300114017