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 Bloomberg1 have attributed the syndrome to parathyroid hyperplasia secondary to calcium malabsorption, whereas Fanconi and Girardet2 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 White3 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.
WHITE JE, BINFORD CC, ROBINSON RR, BLACKARD WG. Familial Hypophosphatemia: Clinical Course and Necropsy. Arch Intern Med. 1963;111(4):460–464. doi:https://doi.org/10.1001/archinte.1963.03620280060009
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