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Science 16 February 1973:
Vol. 179. no. 4074, pp. 700 - 702
DOI: 10.1126/science.179.4074.700
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Articles

Familial Hypophosphatemic Rickets: Defective Transport of Inorganic Phosphate by Intestinal Mucosa

Elizabeth M. Short 1, Henry J. Binder 2, and Leon E. Rosenberg 3

1 Departments of Medicine and Pediatrics, Yale University School of Medicine, New Haven, Connecticut
2 Department of Medicine, Yale University School of Medicine
3 Departments of Human Genetics, Medicine, and Pediatrics, Yale University School of Medicine

Uptake of inorganic phosphate is impared in intestinal mucosa from hemizygous males and heterozygous females with X-linked familial hypophosphatemic rickets. Considerable intrafamilial and interfamilial variation in uptake of inorganic phosphate is observed in affected patients. Uptake by normal mucosa is concentrative and energy-dependent, and is mediated by at least two systems with widely different affinities. These results lend direct support to the thesis that the primary metabolic disturbance in this disease results from impaired transport of inorganic phosphate in kidney and gut.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Familial Glucocorticoid Deficiency in a Girl With Familial Hypophosphatemic Rickets.
B. R. Shah, I. Fiordalisi, K. Sheinbaum, and L. Finberg (1988)
Arch Pediatr Adolesc Med 142, 900-903
   Abstract »    PDF »
Familial Hypophosphatemia.
J. C. M. Chan and G. H. Hirschman (1978)
Clinical Pediatrics 17, 910-911
   PDF »
Familial Hypophosphatemic Rickets: A Delineation of Its Subdivisions and Pathogenesis.
J. Walton (1976)
Clinical Pediatrics 15, 1007-1012
   PDF »
Vitamin D-Resistant Rickets and Parathyroid Adenomas: Renal Transport of Phosphate.
Y. B. Talwalkar, J. E. Musgrave, N. R. M. Buist, R. A. Campbell, and J. R. Campbell (1974)
Arch Pediatr Adolesc Med 128, 704-708
   Abstract »    PDF »
Renal Transplantation in Hypophosphatemia With Vitamin D-Resistant Rickets.
J. M. Morgan, W. L. Hawley, A. I. Chenoweth, W. J. Retan, and A. G. Diethelm (1974)
Arch Intern Med 134, 549-552
   Abstract »    PDF »


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