A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts

Charles Eil; Uri A. Liberman; John F. Rosen; Stephen J. Marx; Stephen J. Marx

doi:10.1056/NEJM198106253042608

A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts

Charles Eil
, Uri A. Liberman
, John F. Rosen
, Stephen J. Marx^*
, Stephen J. Marx^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

102 Scopus citations

Abstract

VITAMIN-D-dependent (or pseudo-vitamin-D-deficient) rickets is characterized by clinical and biochemical features of vitamin-D-deficient rickets and by remission of these features during treatment with supraphysiologic doses of vitamin D or of 25-hydroxyvitamin D (25-(OH)D).^1,2 It is often hereditary, with patterns suggestive of autosomal-recessive transmission. In members of several kindreds who are classified as having vitamin-D-dependent rickets Type I, concentrations of 1,25-dihydroxyvitamin D (1,25(OH)₂D) in serum have been low^3,4; these patients can be treated with doses of 1,25-dihydroxycholecalciferol (1,25-(OH)₂D₃) that are estimated to maintain a normal average serum concentration and turnover of this metabolite.³ Presumably,. . .

Original language	English
Pages (from-to)	1588-1591
Number of pages	4
Journal	New England Journal of Medicine
Volume	304
Issue number	26
DOIs	https://doi.org/10.1056/NEJM198106253042608
State	Published - 25 Jun 1981
Externally published	Yes

Funding

Funders	Funder number
National Institute of Environmental Health Sciences	R37ES001060

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title = "A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts",

abstract = "VITAMIN-D-dependent (or pseudo-vitamin-D-deficient) rickets is characterized by clinical and biochemical features of vitamin-D-deficient rickets and by remission of these features during treatment with supraphysiologic doses of vitamin D or of 25-hydroxyvitamin D (25-(OH)D).1,2 It is often hereditary, with patterns suggestive of autosomal-recessive transmission. In members of several kindreds who are classified as having vitamin-D-dependent rickets Type I, concentrations of 1,25-dihydroxyvitamin D (1,25(OH)2D) in serum have been low3,4; these patients can be treated with doses of 1,25-dihydroxycholecalciferol (1,25-(OH)2D3) that are estimated to maintain a normal average serum concentration and turnover of this metabolite.3 Presumably,. . .",

author = "Charles Eil and Liberman, \{Uri A.\} and Rosen, \{John F.\} and Marx, \{Stephen J.\} and Marx, \{Stephen J.\}",

year = "1981",

month = jun,

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doi = "10.1056/NEJM198106253042608",

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T2 - Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts

AU - Eil, Charles

AU - Liberman, Uri A.

AU - Rosen, John F.

AU - Marx, Stephen J.

PY - 1981/6/25

Y1 - 1981/6/25

N2 - VITAMIN-D-dependent (or pseudo-vitamin-D-deficient) rickets is characterized by clinical and biochemical features of vitamin-D-deficient rickets and by remission of these features during treatment with supraphysiologic doses of vitamin D or of 25-hydroxyvitamin D (25-(OH)D).1,2 It is often hereditary, with patterns suggestive of autosomal-recessive transmission. In members of several kindreds who are classified as having vitamin-D-dependent rickets Type I, concentrations of 1,25-dihydroxyvitamin D (1,25(OH)2D) in serum have been low3,4; these patients can be treated with doses of 1,25-dihydroxycholecalciferol (1,25-(OH)2D3) that are estimated to maintain a normal average serum concentration and turnover of this metabolite.3 Presumably,. . .

AB - VITAMIN-D-dependent (or pseudo-vitamin-D-deficient) rickets is characterized by clinical and biochemical features of vitamin-D-deficient rickets and by remission of these features during treatment with supraphysiologic doses of vitamin D or of 25-hydroxyvitamin D (25-(OH)D).1,2 It is often hereditary, with patterns suggestive of autosomal-recessive transmission. In members of several kindreds who are classified as having vitamin-D-dependent rickets Type I, concentrations of 1,25-dihydroxyvitamin D (1,25(OH)2D) in serum have been low3,4; these patients can be treated with doses of 1,25-dihydroxycholecalciferol (1,25-(OH)2D3) that are estimated to maintain a normal average serum concentration and turnover of this metabolite.3 Presumably,. . .

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A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts

Abstract

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