Familial Hypophosphatemic Rickets

Stoop, J.W. , Schraagen, M.J.C. , and Tiddens, H.A.W.M. : Pseudo vitamin D deficiency rickets. Acta. Paediatr. Scand. 56: 607, 1967.

Scriver, C.R. : Vitamin D dependency (editorial). Pediatrics 45: 361, 1970.

Arnaud, C. , Maijer, R. , Reade, T. , Scriver, C.R. , and Whelan, D.T. : Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism . Pediatrics 46: 871, 1970.

Fraser, D. , and Salter, R.B. : The diagnosis and management of the various types of rickets. Pediatr. Clin. North Am. 5: 417, 1958.

Hamilton, R. , Harrison, J. , Fraser, D. , Radde, I. , Morecki, R. , and Paunier, L. : The small intestine in vitamin D dependent rickets. Pediatrics 45: 364, 1970.

Fraser, D. , Kooh, S.W. , and Scriver, C.R. : Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Pediatr. Res. 1: 425, 1967.

Committee on Nutrition. The praphylactic requirement and the toxicity of vitamin D. Pediatrics 31: 512, 1963.

Rosen, J.F. , and Finberg, L. : Vitamin D-dependent rickets: actions of parathyroid hormone and 25-hydroxycholecalciferol . Pediatr. Res. 6: 552, 1972.

Balsan, S. , and Garabedian, M. : 25-hydroxycholecalciferol. A comparative study in deficiency rickets and different types of resistant rickets. J. Clin. Invest. 51: 749, 1972.

Fraser, D. , Kooh, S.W. , Kind, H.P. , Holick, M.F. , Tanaka, Y. , and DeLuca, H.F. : Pathogenesis of hereditary vitamin D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D. N. Engl. J. Med. 289: 817, 1973.

Winter, R.W. , Graham, J.B. , Williams, T.F. , McFalls, V.W. , and Burnett, C.H. : A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. Medicine 37: 97, 1958.

Albright, F. , Butler, A.M. , and Bloomberg , E. : Rickets resistant to vitamin D therapy. Am. J. Dis. Child. 54: 529, 1937.

DeLuca, H.F. , Lund, J. , Rosenbloom, A.R. , and Lobeck, C.C. : Metabolism of tritiated vitamin D 3 in familial vitamin D-resistant rickets with hypophosphatemia. J. Pediatr. 70: 828, 1967.

Avioli, L.V. , Williams, T.F. , Lund, J. , and DeLuca, H.F. : Metabolism of vitamin D3-3H in vitamin D-resistant rickets and familial hypophosphatemia. J. Clin. Invest. 46: 1907, 1967.

Jackson, W.P.U. , Dowdle, E. , and Linder, G.C. : Vitamin D-resistant osteomalacia. Br. Med. J. 1: 1269, 1958.

Magid, G.J. , Maloney, J.R. , Sirota, J.H. , and Schwab, E.A. : Familial hypophosphatemia: studies on its pathogenesis in an affected mother and son. Ann. Intern. Med. 64: 1009, 1966.

Falls, W.F. , Jr., Carter, N.W. , Rector, F.W. , and Seldin, D.W. : Familial vitamin D-resistant rickets: study of six cases with evaluation of the pathogenic role of secondary hyperparathyroidism . Ann. Intern. Med. 68: 553, 1968.

Field, M.G. , and Reiss, E. : Vitamin D-resistant rickets: the effect of calcium infusion on phosphate reabsorption. J. Clin. Invest. 39: 1807, 1960.

Nigrin, G. , Cochrane, W.A. , Jannigan, D. , and Ernst, A. : Results of calcium infusion and renal biopsy studies in refractory rickets . Am. J. Dis. Child. 104: 478, 1962 (abstract).

Blackard, W.G. , Robinson, R.R. , and White, J.E. : Familial hypophosphatemia: report of a case with observations regarding pathogenesis. N. Engl. J. Med. 266: 899, 1962.

Roof, B.S. , Piel, C.F. , and Gordon, G.S. : Nature of defect responsible for familial vitamin D-resistant rickets (VDRR) based on parathormone (PTH) assay. Clin Res. 20: 624, 1972 (abstract).

Arnaud, C. , Glorieux, F. , and Scriver, C. : Serum parathyroid hormone in X-linked hypophosphatemia. Science 173: 845, 1971.

Lewy, J.E. , Cabana, E.C. , Repetto, H.A. , Canterbury, J.M. , and Reiss, E. : Serum parathyroid hormone in hypophosphatemic vitamin D-resistant rickets . J. Pediatr. 81: 294, 1972.

Reitz, R.E. , and Weinstein, R.L. : Parathyroid hormone secretion in familial vitamin D-resistant rickets. N. Engl. J. Med. 289: 941, 1973.

Hahn, T.J. , Scharp, C.R. , Halstead, L.R. , Haddad, J.G. , Karl, D.M. , and Avioli, L.V. : Parathyroid hormone status and renal responsiveness in familial hypophosphatemic rickets. J. Clin. Endocrinol. Metab. 41: 926, 1975.

Haddad, J.G. , Jr., Chyu, K.J. , Hahn, T.J. , and Stamp, T.C.B. : Serum concentrations of 25-hydroxyvitamin D in sex-linked hypophosphatemic vitamin D-resistant rickets. J. Lab. Clin. Med. 81: 22, 1973.

Earp, H.S. , Ney, R.L. , Gitelman, H.J. , Richman, R. , and DeLuca, H.F. : Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin D-resistant rickets. N. Engl. J. Med. 283: 627, 1970.

Pak, C.Y. , DeLuca, H.F. , Bartter, F.C. , Henneman, D.H. , Frame, B. , Simopoulos, A. , and Delea, C.S. : Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol. Arch. Intern. Med. 129: 894, 1972.

Brickman, A.S. , Coburn, J.W. , Kurokawa, K. , Bethune, J.E. , Harrison, H.E. , and Norman, A.W. : 1,25-dihydroxycholecalciferol in hypophosphatemic, vitamin D-resistant rickets. N. Engl. J. Med. 289: 495, 1973.

Glorieux, F.H. , Holick, M.F. , Scriver, C.R. , and DeLuca, H.F. : X-linked hypophosphatemic rickets: inadequate response to 1,25-dihydroxycholecalciferol. Lancet 2: 287, 1973.

Walton, J. , Bartter, F.C. , and DeLuca, H.F. : Unpublished observations.

Frolik, C.A. , DeLuca, H.F. : The stimulation of 1,25-dihydroxycholecalciferol metabolism in rats by 1,25-dihydroxycholecalciferol metabolism in rats by 1,25-dihydroxycholecalciferol treatment. J. Clin. Invest. 52: 543, 1973.

Robertson, B.R. , Harris, R.C. , and McCune, D.J. : Refractory rickets: mechanism of therapeutic action of calciferol, Am. J. Dis. Child. 64: 948, 1942.

Glorieux, F.H. , Travers, R. , Delvin, E.E. , Morin, C.L. , and Poirier, R. : Intestinal phosphate transport in familial hypophosphatemia. Pediatr. Res. 8: 381, 1974 (abstract).

Walton, J. , Gray, T.K. : Unpublished observations.

Rosenberg, L.E. : Hereditary diseases with membrane defects. In Dowben, R. M. , Ed., Biological Membranes. Boston, Little-Brown , 1969, p. 278.

Short, E.M. , Binder, H.J. , and Rosenberg , L.E. : Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa. Science 179: 700. 1973.

Rasmussen, H. , Anast, C. , Parks, J. , Hanssler, M. , Lane, J. , and Pechet, M. : 1α(OH) D3 in treatment of hypophosphatemic rickets. Clin. Res. 24: 486A, 1976 (abstract).

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. N. Engl. J. Med. 287: 481, 1972.

Hirschman, G.H. , Coleman, T.H. , Rao, D.D. , Hodjati, H. , and Chan, J.C.M. : Hypophosphatemic vitamin D resistant rickets (VDRR): mineral balance studies under short- and long-term vitamin D plus inorganic phosphate (Pi) supplementation. Pediatr. Res. 10: 410, 1976 (abstract).

Hirschman, G.H. , and Rao, D.D. : Familial hypophosphatemia vitamin D resistant rickets— management, Chan, J. C. M., Ed. Pediatr. Clin. North Am. 23: Nov, 1976.