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Charles Y. C. Pak, MD; Hector F. DeLuca, PhD; Frederic C. Bartter, MD; Dorothy H. Henneman, MD; Boy Frame, MD; Artemis Simopoulos, MD; Catherine S. Delea

Arch Intern Med. 1972;129(6):894-899.

Abstract
The clinical usefulness of 25-hydroxycholecalciferol (calcifediol, 25-HCC) was determined in three patients with vitamin D-resistant rickets (familial x-linked recessive in two, and familial autosomal dominant in one). Two patients responded favorably to calcifediol (4,000 to 5,000 units/day) by the following criteria: They showed a net retention of calcium and phosphorus. Gastrointestinal absorption of calcium increased. Urinary excretion of phosphorus and the endogenous phosphorus clearance decreased. In one patient (with familial hypophosphatemia) serum phosphorus concentration and alkaline phosphatase activity returned towards normal; urinary total hydroxyproline increased and nondialyzable hydroxyproline decreased. The third patient (with familial hypophosphatemia) responded to calcifediol during the first 16 days of treatment with increases in serum phosphorus concentration and in urinary calcium excretion. However, he became resistant to calcifediol as treatment was continued.

Author Affiliations
Bethesda, Md; Madison, Wis; Bethesda, Md; Raritan, NJ; Detroit; Bethesda, Md

From the Section on Mineral Metabolism, Endocrinology Branch, National Heart and Lung Institute, National Institutes of Health, Bethesda, Md (Drs. Pak, Bartter, Simopoulos, and Miss Delea); Department of Biochemistry, University of Wisconsin, Madison (Dr. DeLuca); Or-; tho Research Laboratories, Raritan, NJ (Dr. Henneman); and Henry Ford Hospital, Detroit (Dr. Frame).

Footnotes
Received for publication March 1, 1971; accepted April 27.

Reprint requests to Section on Mineral Metabolism, Department of Internal Medicine, University of Texas Southwestern Medical School, Dallas (Dr. Pak).

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