GEORGE J. MAGID, M.D., F.A.C.P.; JOHN R. MALONEY, M.D.; JONAS H. SIROTA, M.D., F.A.C.P.; EDWARD A. SCHWAB JR., B.A.
An increasing number of reviews have described the clinical, laboratory, and X-ray findings of a form of rickets or osteomalacia similar to that due to vitamin D deficiency and resistant to ordinary doses of vitamin D. The main biochemical abnormalities are hypophosphatemia, normal or slightly reduced serum calcium concentrations, and in most cases, elevated serum alkaline phosphatase concentrations. Except for elevated renal phosphate clearances and rare instances of associated amino-aciduria or glycosuria, renal function has been shown to be normal. No other evidence of renal tubular dysfunction has been noted.
The most consistent characteristic in all of the reported cases
GEORGE J. MAGID, JOHN R. MALONEY, JONAS H. SIROTA, EDWARD A. SCHWAB. Familial Hypophosphatemia: Studies on its Pathogenesis in an Affected Mother and Son. Ann Intern Med. 1966;64:1009–1027. doi: 10.7326/0003-4819-64-5-1009
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Published: Ann Intern Med. 1966;64(5):1009-1027.
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