Abstract
The etiology of rachitic bone disease associated with hypophosphatemia, which requires large doses of vitamin D for treatment, has been a subject of dispute. Albright, Butler, and Bloomberg 1 have attributed the syndrome to parathyroid hyperplasia secondary to calcium malabsorption, whereas Fanconi and Girardet 2 have proposed an intrinsic and primary renal tubular defect in phosphate reabsorption. Evidence bearing on each of these mechanisms has been presented by Blackard, Robinson, and White 3 in a study of a kindred and the propositus who necropsy is described here. Secondary hype parathyroidism appeared clinically to fit the data obtained better than did a renal tubular defect. The present report describes the patient's course during subsequent follow-up for one year and includes the only necropsy findings in proved familial hypophosphatemia known to us. Summary of the Initial Case Report3 A 44-year-old electrician entered the Veterans Administration Hospital because of arthralgias and paresthesias.
Published Version
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