Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings

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To Cite : Ghazi A A, Zadeh-Vakili A, Zarif Yeganeh M, Alamdari S, Amouzegar A, et al. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings, Int J Endocrinol Metab. 2017 ;15(3):e12384. doi: 10.5812/ijem.12384.
Copyright: Copyright © 2017, International Journal of Endocrinology and Metabolism. .
1. Introduction
2. Presentation of the Cases
3. Discussion
  • 1. Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. 2009; 160(3): 491-7[DOI][PubMed]
  • 2. Malloy PJ, Feldman D. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am. 2010; 39(2): 333-46[DOI][PubMed]
  • 3. Malloy PJ, Wang J, Srivastava T, Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. Mol Genet Metab. 2010; 99(1): 72-9[DOI][PubMed]
  • 4. Feldman D, J. Malloy P . Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets. Bonekey Rep. 2014; 3: 510[DOI][PubMed]
  • 5. Malloy PJ, Tasic V, Taha D, Tutunculer F, Ying GS, Yin LK, et al. Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. Mol Genet Metab. 2014; 111(1): 33-40[DOI][PubMed]
  • 6. Brooks MH, Bell NH, Love L, Stern PH, Orfei E, Queener SF, et al. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med. 1978; 298(18): 996-9[DOI][PubMed]
  • 7. Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, Feldman D, et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science. 1988; 242(4886): 1702-5[PubMed]
  • 8. Baker AR, McDonnell DP, Hughes M, Crisp TM, Mangelsdorf DJ, Haussler MR, et al. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci U S A. 1988; 85(10): 3294-8[PubMed]
  • 9. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3): 1215[PubMed]
  • 10. Shafeghati Y, Momenin N, Esfahani T, Reyniers E, Wuyts W. Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. Arch Iran Med. 2008; 11(3): 330-4
  • 11. Hsieh JC, Slater SA, Whitfield GK, Dawson JL, Hsieh G, Sheedy C, et al. Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle. J Cell Biochem. 2010; 110(3): 671-86[DOI][PubMed]
  • 12. Tiosano D, Hadad S, Chen Z, Nemirovsky A, Gepstein V, Militianu D, et al. Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. J Clin Endocrinol Metab. 2011; 96(12): 3701-9[DOI][PubMed]
  • 13. Damiani FM, Martin RM, Latronico AC, Ferraz-de-Souza B. Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations. Osteoporos Int. 2015; 26(6): 1819-23[DOI][PubMed]
  • 14. Macedo LC, Soardi FC, Ananias N, Belangero VM, Rigatto SZ, De-Mello MP, et al. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. Arq Bras Endocrinol Metabol. 2008; 52(8): 1244-51[PubMed]
  • 15. Hochberg Z. Vitamin-D-dependent rickets type 2. Horm Res. 2002; 58(6): 297-302[PubMed]
  • 16. Takeda E, Yokota I, Kawakami I, Hashimoto T, Kuroda Y, Arase S. Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. Eur J Pediatr. 1989; 149(1): 54-7[PubMed]
  • 17. Chaturvedi D, Garabedian M, Carel JC, Leger J. Different mechanisms of intestinal calcium absorption at different life stages: therapeutic implications and long-term responses to treatment in patients with hereditary vitamin D-resistant rickets. Horm Res Paediatr. 2012; 78(5-6): 326-31[DOI][PubMed]
  • 18. Van Cromphaut SJ, Rummens K, Stockmans I, Van Herck E, Dijcks FA, Ederveen AG, et al. Intestinal calcium transporter genes are upregulated by estrogens and the reproductive cycle through vitamin D receptor-independent mechanisms. J Bone Miner Res. 2003; 18(10): 1725-36[DOI][PubMed]
  • 19. Ueyama T, Shirasawa N, Numazawa M, Yamada K, Shelangouski M, Ito T, et al. Gastric parietal cells: potent endocrine role in secreting estrogen as a possible regulator of gastro-hepatic axis. Endocrinology. 2002; 143(8): 3162-70[DOI][PubMed]
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