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Pathogenesis of Familial Vitamin D-Resistant Rickets

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Department of Medicine
University of North Carolina School of Medicine
Chapel Hill, N. C.

Ann Intern Med. 1968;68(3):706-707. doi:10.7326/0003-4819-68-3-706
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Familial Vitamin D-resistant rickets with hypophosphatemia presents the challenge of apparently simple genetics but multi-organ sites of expression of the disorder. With very rare exceptions its inheritance is consistent with a single-dose effect in the X-linked gene ("sex-linked dominance"), and, when hypophosphatemia is used as the indicator of its presence, the degree of expressivity or penetrance is virtually complete. How, then, does one account in a unifying way for the findings of [1] decreased net renal tubular reabsorption of phosphate (which presumably is the explanation for the hypophosphatemia), [2] decreased intestinal reabsorption of calcium, [3] the bony abnormalities consisting not


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