Abstract
A five and a half year follow up of a girl with end organ resistant rickets is described. After failing to respond to high dose oral alfacalcidol (4 micrograms/kg/day) and calcium supplements, treatment for one year with domiciliary intra-atrial calcium infusions at 2 years of age induced a complete remission, which was maintained on subsequent high dose oral calcium supplement. Overnight infusions were well tolerated without adverse cardiovascular or renal sequelae or ectopic calcification. If the first three years of life are survived, the prognosis for a normal life on oral treatment is excellent.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Baker A. R., McDonnell D. P., Hughes M., Crisp T. M., Mangelsdorf D. J., Haussler M. R., Pike J. W., Shine J., O'Malley B. W. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci U S A. 1988 May;85(10):3294–3298. doi: 10.1073/pnas.85.10.3294. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Balsan S., Garabédian M., Larchet M., Gorski A. M., Cournot G., Tau C., Bourdeau A., Silve C., Ricour C. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. J Clin Invest. 1986 May;77(5):1661–1667. doi: 10.1172/JCI112483. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bliziotes M., Yergey A. L., Nanes M. S., Muenzer J., Begley M. G., Vieira N. E., Kher K. K., Brandi M. L., Marx S. J. Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions. J Clin Endocrinol Metab. 1988 Feb;66(2):294–300. doi: 10.1210/jcem-66-2-294. [DOI] [PubMed] [Google Scholar]
- Brooks M. H., Bell N. H., Love L., Stern P. H., Orfei E., Queener S. F., Hamstra A. J., DeLuca H. F. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med. 1978 May 4;298(18):996–999. doi: 10.1056/NEJM197805042981804. [DOI] [PubMed] [Google Scholar]
- Fraher L. J., Karmali R., Hinde F. R., Hendy G. N., Jani H., Nicholson L., Grant D., O'Riordan J. L. Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. Eur J Pediatr. 1986 Oct;145(5):389–395. doi: 10.1007/BF00439245. [DOI] [PubMed] [Google Scholar]
- Haussler M. R., Mangelsdorf D. J., Komm B. S., Terpening C. M., Yamaoka K., Allegretto E. A., Baker A. R., Shine J., McDonnell D. P., Hughes M. Molecular biology of the vitamin D hormone. Recent Prog Horm Res. 1988;44:263–305. doi: 10.1016/b978-0-12-571144-9.50013-2. [DOI] [PubMed] [Google Scholar]
- Hochberg Z., Tiosano D., Even L. Calcium therapy for calcitriol-resistant rickets. J Pediatr. 1992 Nov;121(5 Pt 1):803–808. doi: 10.1016/s0022-3476(05)81919-5. [DOI] [PubMed] [Google Scholar]
- Hughes M. R., Malloy P. J., Kieback D. G., Kesterson R. A., Pike J. W., Feldman D., O'Malley B. W. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science. 1988 Dec 23;242(4886):1702–1705. doi: 10.1126/science.2849209. [DOI] [PubMed] [Google Scholar]
- Reichel H., Koeffler H. P., Norman A. W. The role of the vitamin D endocrine system in health and disease. N Engl J Med. 1989 Apr 13;320(15):980–991. doi: 10.1056/NEJM198904133201506. [DOI] [PubMed] [Google Scholar]
- Underwood J. L., DeLuca H. F. Vitamin D is not directly necessary for bone growth and mineralization. Am J Physiol. 1984 Jun;246(6 Pt 1):E493–E498. doi: 10.1152/ajpendo.1984.246.6.E493. [DOI] [PubMed] [Google Scholar]
- Weisman Y., Bab I., Gazit D., Spirer Z., Jaffe M., Hochberg Z. Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am J Med. 1987 Nov;83(5):984–990. doi: 10.1016/0002-9343(87)90666-8. [DOI] [PubMed] [Google Scholar]