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April 1963

Familial Hypophosphatemia: Clinical Course and Necropsy

Author Affiliations


Clinical Investigator, Veterans Administration Hospital (Dr. White); Assistant Resident in Pathology, Duke University Medical Center and Veterans Administration Hospital (Dr. Binford); Clinical Investigator, Veterans Administration Hospital (Dr. Robinson); formerly, Assistant Resident, Duke University Medical Center (Dr. Blackard).; From the Departments of Medicine and Pathology, Duke University Medical Center Division of Endocrinology and Veterans Administration Hospital.

Arch Intern Med. 1963;111(4):460-464. doi:10.1001/archinte.1963.03620280060009

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.