Abstract
In 1937 Albright and co-workers described a patient with hypophosphatemic rickets resistant to vitamin D therapy.1 They illustrated for the first time the concept that a state of hormone or vitamin deficiency could be caused by a defect in the tissue response to a factor rather than by reduced concentrations of that factor. In 1961 Prader and associates described a group of children with hypocalcemic rickets unresponsive to physiological doses of vitamin D (calciferol) but responsive to and dependent upon pharmacological doses of the vitamin.2 The terms pseudo-vitamin D deficiency or vitamin D dependency have been used interchangeably to describe this disorder.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
F. Albright, A. M. Butler, and E. Bloomberg, Rickets resistant to vitamin D therapy. Am. J. Dis. Child 54: 529 (1937).
A. Prader, R. Illig and E. Heierli, Eine besondere form der primaren vitamin D-resistenten rachitis mit hypocalcamie and autosomal-dominanten erbgang: die hereditare pseudomangelrachitis. Helv. Pediat. Acta. 16: 452 (1961).
C. R. Scriver, T. M. Reade, H. F. DeLuca and A. J. Hamstra, Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N. Engl. J. Med. 299: 976 (1978).
M. H. Brooks, N. H. Bell, L. Love, P. H. Stern, E. Ordei, S. J. Queener, A. J. Hamstra and H. F. DeLuca, Vitamin D dependent rickets type II, resistance of target organs to 1,25-dihydroxy-vitamin D. N. Engl. J. Med. 298: 996 (1978).
S. J. Marx, A. M. Spiegel, E. M. Brown, D. G. Gardner, R. W. Downs, Jr., M. Attie, A. J. Hamstra and H. F. DeLuca, A familial syndrome of decrease in sensitivity to 1,25-dihydroxy-vitamin D. J. Clin. Endocrinol. Metab. 47: 1303 (1978).
J. E. Zerwekh, K. Glass, J. Jowsey and C. Y. C. Pak, An unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D. J. Clin. Endocrinol. Metab. 49: 171 (1979).
J. S. Adams, T. O. Wahl, M. V. Moore, W. A. Horton and B. P. Lukert, Familial vitamin D dependent rickets: further evidence for end organ resistance to active vitamin D metabolites. 61st Annual Meeting of the Endocrine Society 767 (abstract) (1979).
J. F. Rosen, A. R. Fleischman, L. Finberg, A. Hamstra and H. F. DeLuca, Rickets with alopecia: An inborn error of vitamin D metabolism. J. Pediat. 94: 729 (1979).
U. A. Liberman, R. Samuel, A. Halabe, R. Kauli, S. Edelstein, Y. Weisman, S. E. Papapoulos, T. L. Clemens, L. J. Fraher and J. L. H. O’Riordan, End-organ resistance to 1,25dihydroxycholecalciferol. Lancet 1: 504 (1980).
T. Fujita, M. Nomura, S. Okajima and H. Suzuya, Adult-onset vitamin D-resistant osteomalacia with unresponsiveness to parathyroid hormone. J. Clin. Endocrinol. Metab. 50: 927 (1980).
J. J. Sockalosky, P. A. Ulstrom, H. F. DeLuca and D. M. Brown, Vitamin D-resistant rickets: End organ unresponsiveness to 1,25(OH)2D3. J. Pediat. 96: 701 (1980).
Y. Tsuchiya, N. Matsuo, H. Cha, M. Kumagai, A. Yasaka, T. Suda, H. Orimo and M. Shiraki, An unusual form of vitamin D-dependent rickets in a child: Alopecia and marked end-organ hyposensitivity to biologically active vitamin D. J. Clin. Endocrinol. Metab. 51: 685 (1980).
S. Beer, M. Tieder, D. Kohelet, U. A. Liberman, E. Vure, G. Bar-Joseph, D. Gabizon, Z. U. Borochowitz, M. Varon and D. Modai, Vitamin D-resistant rickets with alopecia: A form of end organ resistance to vitamin D. Clin. Endocrinol. 14: 395 (1981).
T. Kudoh, T. Kummagai, N. Uetsuji, S. Tsugawa, K. Oyanagi, Y. Chiba, R. Minami and T. Nakao, Vitamin D dependent rickets: Decreased sensitivity to 1,25-dihydroxyvitamin D. Eur. J. Pediat. 137: 307 (1981).
D. Feldman, T. Chen, C. Cone, M. Hirst, S. Shari, A. Benderli and Z. Hochberg, Vitamin D resistant rickets with alopecia: Cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3. J. Clin. Endocrinol. Metab. 55: 1020 (1982).
S. Balsan, M. Garabedian, U. A. Liberman, C. Eil, A. Bourdeau, H. Guillozo, R. Grimberg, M. J. LeDeunff, M. Lieberherr, P. Guimbaud, M. Broyer and S. J. Marx, Rickets and alopecia with resistance to 1,25dihydroxyvitamin D: Two different clinical courses with two different cellular defects. J. Clin. Endocrinol. Metab. 57: 803 (1983).
S. Castells, F. Greig, M. Fusi, L. Finberg, S. Yasumura, U. A. Liberman, C. Eil and S. J. Marx, Vitamin D dependent rickets type II (DDII) with alopecia. Treatment with megadoses of 1,25(OH)2D3 overcomes affinity defect in receptor for 1,25(OH)2D. Ped. Res. 18: 291A (abstract) 1984 ).
T. L. Chen, M. A. Hirst, C. M. Cone, Z. Hochberg, H. U. Tietze and D. Feldman, 1,25-dihydroxyvitamin D resistance, rickets and alopecia: Analysis of receptors and bioresponse in cultured skin fibroblasts from patients and parents. J. Clin. Endocrinol. Metab. 59: 383 (1984).
M. Hirst, H. Hochman and D. Feldman, Vitamin D resistant rickets and alopecia: A kindred with normal [3H]1,25(OH)2D3 binding but decreased receptor affinity for DNA. 6th Annual Meeting of the American Society for Bone and Mineral Research A-67 (abstract) (1984).
Z. Hochberg, Z. Benderli, J. Levy, Y. Weisman, T. Chen and D. Feldman, 1,25-dihydroxyvitamin D resistance, rickets, and alopecia. Am. J. Med. 77: 805 (1984).
S. J. Marx, U. A. Liberman, C. Eil, G. T. Gamblin, D. A. DeGrange and S. Balsan, Hereditary resistance to 1,25-dihydroxyvitamin D. Rec. Prog. Horm. Res. 40: 589 (1984).
W. E. Stumpf, M. Sar and H. R. DeLuca, Sites of action of 1,25(OH)2vitamin D3 identified by thaw-mount autoradiography, in: “Hormonal Control of Calcium Metabolism”, D. V. Cohn, R. V. Talmaga, J. L. Mathews, ed., Excerpta Medica Amsterdam, p. 222 (1981).
J. H. Saurat, L. Didierjean, J. H. Pavlovitch, D. Lauri and S. Balsan, Skin calcium binding protein is localized in the cytoplasm of the basal layer of the epidermis. J. Invest. Dermatol. 76: 221 (1981).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1986 Plenum Press, New York
About this chapter
Cite this chapter
Liberman, U.A., Eil, C., Marx, S.J. (1986). Clinical Features of Hereditary Resistance to 1,25-Dihydroxyvitamin D (Hereditary Hypocalcemic Vitamin D Resistant Rickets Type II). In: Chrousos, G.P., Loriaux, D.L., Lipsett, M.B. (eds) Steroid Hormone Resistance. Advances in Experimental Medicine and Biology, vol 196. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5101-6_26
Download citation
DOI: https://doi.org/10.1007/978-1-4684-5101-6_26
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5103-0
Online ISBN: 978-1-4684-5101-6
eBook Packages: Springer Book Archive