Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25 dihydroxy vitamin D - PubMed (original) (raw)
Case Reports
Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25 dihydroxy vitamin D
S Beer et al. Clin Endocrinol (Oxf). 1981 Apr.
Abstract
A 4-year-old girl presented with severe clinical and radiological rickets, and alopecia since the age of 1 year. Laboratory studies revealed: hypocalcaemia, hypophosphataemia, secondary hyperparathyroidism, abnormally low intestinal calcium absorption, and markedly elevated circulating 1,25(OH)2D3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D2, 1 alpha (OH)D3 and 1,25(OH)2D3 were totally ineffective. Intestinal resistance to the action of 1,25(OH)2D3 appeared well established in this case. Refractoriness of bone to this hormone seems less certain. From this new entity of 'Vitamin D resistant rickets due to end organ unresponsiveness', six cases have been hitherto reported in the literature. However, only two have enough resemblance to our case, to constitute a distinct and well defined nosologic subunit. The molecular basis of this disorder(s) remains to be elucidated.
Similar articles
- Rickets and alopecia with resistance to 1,25-dihydroxyvitamin D: two different clinical courses with two different cellular defects.
Balsan S, Garabedian M, Liberman UA, Eil C, Bourdeau A, Guillozo H, Grimberg R, Le Deunff MJ, Lieberherr M, Guimbaud P, Broyer M, Marx SJ. Balsan S, et al. J Clin Endocrinol Metab. 1983 Oct;57(4):803-11. doi: 10.1210/jcem-57-4-803. J Clin Endocrinol Metab. 1983. PMID: 6309886 - Vitamin D--resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3.
Sockalosky JJ, Ulstrom RA, DeLuca HF, Brown DM. Sockalosky JJ, et al. J Pediatr. 1980 Apr;96(4):701-3. doi: 10.1016/s0022-3476(80)80748-7. J Pediatr. 1980. PMID: 6244382 No abstract available. - An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D.
Tsuchiya Y, Matsuo N, Cho H, Kumagai M, Yasaka A, Suda T, Orimo H, Shiraki M. Tsuchiya Y, et al. J Clin Endocrinol Metab. 1980 Oct;51(4):685-90. doi: 10.1210/jcem-51-4-685. J Clin Endocrinol Metab. 1980. PMID: 6252222 - The kidney as an endocrine organ involved in the function of vitamin D.
DeLuca HF. DeLuca HF. Am J Med. 1975 Jan;58(1):39-47. doi: 10.1016/0002-9343(75)90531-8. Am J Med. 1975. PMID: 163578 Review. - Vitamin D-resistant rickets. A prototype of nutritional management of a genetic disorder.
Deluca HF. Deluca HF. Curr Concepts Nutr. 1979;8:3-32. Curr Concepts Nutr. 1979. PMID: 230941 Review.
Cited by
- Polymorphisms Contributing to Calcium Status: A Systematic Review.
da Silva Lopes K, Abe SK. da Silva Lopes K, et al. Nutrients. 2021 Jul 21;13(8):2488. doi: 10.3390/nu13082488. Nutrients. 2021. PMID: 34444650 Free PMC article. - Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene.
Supornsilchai V, Hiranras Y, Wacharasindhu S, Mahayosnond A, Suphapeetiporn K, Shotelersuk V. Supornsilchai V, et al. Endocrine. 2011 Aug;40(1):62-6. doi: 10.1007/s12020-011-9450-9. Epub 2011 Mar 18. Endocrine. 2011. PMID: 21424181 - Role of vitamin D receptor in the antiproliferative effects of calcitriol in tumor-derived endothelial cells and tumor angiogenesis in vivo.
Chung I, Han G, Seshadri M, Gillard BM, Yu WD, Foster BA, Trump DL, Johnson CS. Chung I, et al. Cancer Res. 2009 Feb 1;69(3):967-75. doi: 10.1158/0008-5472.CAN-08-2307. Epub 2009 Jan 13. Cancer Res. 2009. PMID: 19141646 Free PMC article. - Nuclear receptors of the enteric tract: guarding the frontier.
Schmidt DR, Mangelsdorf DJ. Schmidt DR, et al. Nutr Rev. 2008 Oct;66(10 Suppl 2):S88-97. doi: 10.1111/j.1753-4887.2008.00092.x. Nutr Rev. 2008. PMID: 18844851 Free PMC article. Review. - Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia.
Li YC, Pirro AE, Amling M, Delling G, Baron R, Bronson R, Demay MB. Li YC, et al. Proc Natl Acad Sci U S A. 1997 Sep 2;94(18):9831-5. doi: 10.1073/pnas.94.18.9831. Proc Natl Acad Sci U S A. 1997. PMID: 9275211 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources