Abstract
With the almost complete disappearance of vitamin D deficiency in the North-American continent, most cases of rickets now encountered on the pediatric wards may be attributed to one of the several states of vitamin D resistance. The most common of them is familial hypophosphatemic rickets (FHR) a condition usually transmitted as a sex-linked dominant trait. It is characterized by a hypophosphatemia present at birth, bone changes resembling vitamin D deficiency rickets and growth retardation. Bony deformities of the lower limbs are frequent but myopathy is strikingly absent (1).
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Winters, R.W., Graham, J.B., Williams, T.F., McFalls, V.W. and Burnett, C.M.: A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. Medicine 37: 97 - 142, 1958.
Glorieux, F.H. and Scriver, C.R.: Loss of a parathyroid hormone sensitive component of phosphate transport in X-linked hypophosphatemia. Science 175: 997 - 1000, 1972.
Glorieux, F.H., Scriver, C.R., Reade, T.M., Goldman, H. and Roseborough, A.: Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. New England J. of Med. 287: 481 - 487, 1972.
Steendijk,R., van der Hooff, A., Niebsen, H.K.L. and Dowsey, J.: Lesion of the bone matrix in vitamin-D resistant rickets. Nature 207: 426 - 427, 1965.
Steendijk,R. and Boyde, A.: Scanning electron microscopic observations on bone from patients with hypophosphatemic (vitamin D resistant) rickets. Calc. Tiss. Res. 11: 242 - 250, 1973.
Frame, B., Arnstein, A.R., Frost, H.M. and Smith, R.W.: Resistant osteomalacia. Am. J. Med. 38: 134 - 144, 1965.
Bijvoet, O.L.M., Morgan, D.B. and Fourman, P.: The assessment of phosphate reabsorption. Clin. Chim. Acta 26: 15 - 24, 1969.
Bordier, P., Tun-Chot, S., Martin, J., Queillé, M.L. and Hioco, D.J:Mineralisation du tissu osteoide chez l’ostéomalacique induite par surcharge phosphorée ou par la vitamine D3 In phosphate et métabolisme phosphocalcique. D. Hioco, Ed. Paris, Editions Sandoz 79-88, 1971.
Scriver, C.R., MacDonald, W., Reade, T.M., Glorieux, F.H. and Nogrady, B.: Hypophosphatemic non-rachitic bone disease; an entity distinct from X-linked hypophosphatemia in the renal defect bone involvement and inheritance. Amer. J. of Human Genetics. In press.
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© 1978 Plenum Press, New York
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Glorieux, F.H., Bordier, P.J., Marie, P., Delvin, E.E., Travers, . (1978). Inadequate Bone Response to Phosphate and Vitamin D in Familial Hypophosphatemic Rickets (FHR). In: Massry, S.G., Ritz, E., Rapado, A. (eds) Homeostasis of Phosphate and Other Minerals. Advances in Experimental Medicine and Biology, vol 103. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7758-0_25
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DOI: https://doi.org/10.1007/978-1-4684-7758-0_25
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