WILLIAM F. FALLS JR., M.D.; NORMAN W. CARTER, M.D.; FLOYD C. RECTOR JR., M.D.; DONALD W. SELDIN, M.D., F.A.C.P.
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Six members of a family with the classic genetic and clinical picture of vitamin D-resistant rickets were studied. All patients had a low maximum tubular reabsorption of phosphate and phosphate clearances that were either high or borderline when consideration was made for age and size. A standard calcium infusion test failed to enhance phosphate reabsorption in five of six patients. A massive infusion of calcium, however, strikingly augmented phosphate reabsorption in four patients who did not respond to the standard infusion. In one patient there was complete clearing of phosphate from the urine. These results were interpreted to mean that the phosphaturia was due to secondary hyperparathyroidism rather than to a primary defect in tubular reabsorption of phosphate. The fact that phosphate reabsorption was enhanced only by marked hypercalcemia suggests that there was partial parathyroid autonomy.
FALLS WF, CARTER NW, RECTOR FC, SELDIN DW. Familial Vitamin D-Resistant Rickets: Study of Six Cases with Evaluation of the Pathogenetic Role of Secondary Hyperparathyroidism. Ann Intern Med. 1968;68:553–560. doi: 10.7326/0003-4819-68-3-553
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Published: Ann Intern Med. 1968;68(3):553-560.
Endocrine and Metabolism, Metabolic Bone Disorders, Parathyroid Disorders.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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