TY - JOUR
T1 - END-ORGAN RESISTANCE TO 1,25-DIHYDROXYCHOLECALCIFEROL
AU - Liberman, U. A.
AU - Halabe, A.
AU - Samuel, R.
AU - Kauli, R.
AU - Edelstein, S.
AU - Weisman, Y.
AU - Papapoulos, S. E.
AU - Fraher, L. J.
AU - Clemens, T. L.
AU - O'Riordan, J. L.H.
N1 - Funding Information:
We thank the staff of the Unit for Metabolic Diseases and espeaaih Mr N. Nabah and Mr S. Weidenfeld for technical assistance and Pro Z. Laron and Dr S. Ligom for their advice. la-OHD3 used in thes studies was kindly provided by Prof Y. Mazur and Teva Pharmaceuu cal Industries. We also thank the Wellcome Trust for financial suppor to J. L. H. O’R. The help of Drs E. Slatopolsky, F. Shani and J. Bern heim with the PTH assays is greatly appreciated. Requests for reprints should be addressed to U. A. L., Umt Metabolic Diseases, Beilinson Medical Centre, Petah-Tikva, Israel.
PY - 1980/3/8
Y1 - 1980/3/8
N2 - A 13-year-old girl with total alopecia who in infancy had rickets unresponsive to large doses of vitamin D2 is described. She had profound hypocalcæmia which was resistant to treatment with high doses of dihydrotachysterol, 1α-hydroxycholecalciferol, and 1,25-dihydroxycholecalciferol. Serum concentrations of 25-hydroxyvitamin D were normal but those of 1,25-dihydroxycholecalciferol were markedly raised (674 and 745 pg/ml). In addition, 24,25-dihydroxyvitamin D was undetectable in serum. Administration of synthetic 24,25-dihydroxycholecalciferol was followed by normocalcæmia which persisted long after treatment was stopped. Her sister, who died at the age of 10 months, also had had total alopecia, rickets, and hypocalcæmia resistant to vitamin-D2 therapy. In this familial syndrome there seems to be end-organ resistance to the action of 1,25-dihydroxycholecalciferol, possibly as a result of changes at the receptor sites.
AB - A 13-year-old girl with total alopecia who in infancy had rickets unresponsive to large doses of vitamin D2 is described. She had profound hypocalcæmia which was resistant to treatment with high doses of dihydrotachysterol, 1α-hydroxycholecalciferol, and 1,25-dihydroxycholecalciferol. Serum concentrations of 25-hydroxyvitamin D were normal but those of 1,25-dihydroxycholecalciferol were markedly raised (674 and 745 pg/ml). In addition, 24,25-dihydroxyvitamin D was undetectable in serum. Administration of synthetic 24,25-dihydroxycholecalciferol was followed by normocalcæmia which persisted long after treatment was stopped. Her sister, who died at the age of 10 months, also had had total alopecia, rickets, and hypocalcæmia resistant to vitamin-D2 therapy. In this familial syndrome there seems to be end-organ resistance to the action of 1,25-dihydroxycholecalciferol, possibly as a result of changes at the receptor sites.
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U2 - 10.1016/S0140-6736(80)92763-4
DO - 10.1016/S0140-6736(80)92763-4
M3 - Article
C2 - 6102232
AN - SCOPUS:0018898374
SN - 0140-6736
VL - 315
SP - 504
EP - 507
JO - The Lancet
JF - The Lancet
IS - 8167
ER -