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Case Reports in Endocrinology
Volume 2012, Article ID 238364, 5 pages
http://dx.doi.org/10.1155/2012/238364
Case Report

Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis

1Department of Medicine, Emory University School of Medicine, 101 Woodruff Circle NE, Atlanta, GA 30322, USA
2Division of Endocrinology, Metabolism and Lipids, Department of Medicine, School of Medicine and Atlanta VA Medical Center Emory University, Decatur, GA 30300, USA

Received 15 October 2011; Accepted 9 November 2011

Academic Editors: G. Aimaretti, M. A. Boyanov, and S. Simsek

Copyright © 2012 Zahi Mitri and Vin Tangpricha. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. Z. Stark and R. Savarirayan, “Osteopetrosis,” Orphanet Journal of Rare Diseases, vol. 4, no. 1, article 5, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. D.M. Brown and P.B. Dent, “Pathogenesis of osteopetrosis: a comparison of human and animal spectra,” Pediatric Research, vol. 5, pp. 181–191, 1971. View at Google Scholar
  3. C. Jacquemin, P. Mullaney, and E. Svedberg, “Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain,” Neuroradiology, vol. 40, no. 10, pp. 662–663, 1998. View at Publisher · View at Google Scholar · View at Scopus
  4. C. Letizia, A. Taranta, S. Migliaccio et al., “Type II benign osteopetrosis (Albers-Schönberg Disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations,” Calcified Tissue International, vol. 74, no. 1, pp. 42–46, 2004. View at Publisher · View at Google Scholar · View at Scopus
  5. K. J. Borthwick, N. Kandemir, R. Topaloglu et al., “A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis,” Journal of Medical Genetics, vol. 40, no. 2, pp. 115–121, 2003. View at Google Scholar · View at Scopus
  6. L. Van Wesenbeeck, E. Cleiren, J. Gram et al., “Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density,” American Journal of Human Genetics, vol. 72, no. 3, pp. 763–771, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. E. Van Hul, J. Gram, J. Bollerslev et al., “Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13,” Journal of Bone and Mineral Research, vol. 17, no. 6, pp. 1111–1117, 2002. View at Google Scholar · View at Scopus
  8. Z. L. Zhang, J. W. He, H. Zhang et al., “Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II),” Journal of Bone and Mineral Metabolism, vol. 27, no. 4, pp. 444–451, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. E. Cleiren, O. Bénichou, E. Van Hul et al., “Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene,” Human Molecular Genetics, vol. 10, no. 25, pp. 2861–2867, 2001. View at Google Scholar · View at Scopus
  10. J. Bollerslev and L. Mosekilde, “Autosomal dominant osteopetrosis,” Clinical Orthopaedics and Related Research, no. 294, pp. 45–51, 1993. View at Google Scholar · View at Scopus
  11. J. Gram, S. Antonsen, M. Horder, and J. Bollerslev, “Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II,” Calcified Tissue International, vol. 48, no. 6, pp. 438–439, 1991. View at Google Scholar · View at Scopus
  12. A. Gaasbeek and A. E. Meinders, “Hypophosphatemia: an update on its etiology and treatment,” American Journal of Medicine, vol. 118, no. 10, pp. 1094–1101, 2005. View at Publisher · View at Google Scholar · View at Scopus
  13. A. S. Alizadeh Naderi and R. F. Reilly, “Hereditary disorders of renal phosphate wasting,” Nature Reviews Nephrology, vol. 6, no. 11, pp. 657–665, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. D. Tiosano and Z. Hochberg, “Hypophosphatemia: the common denominator of all rickets,” Journal of Bone and Mineral Metabolism, vol. 27, no. 4, pp. 392–401, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. F. S. Kaplan, C. S. August, M. D. Fallon, F. Gannon, and J. G. Haddad, “Osteopetrorickets: the paradox of plenty. Pathophysiology and treatment,” Clinical Orthopaedics and Related Research, no. 294, pp. 64–78, 1993. View at Google Scholar · View at Scopus
  16. Y. Bükte, F. Gürkan, M. Davutoǧlu, A. Gözü, and M. Bilici, “Infantile osteopetrosis associated with rickets,” European Journal of General Medicine, vol. 2, no. 1, pp. 32–34, 2005. View at Google Scholar · View at Scopus
  17. C. Kirubakaran, K. R. Ranjini, J. X. Scott, M. Basker, and G. Sridhar, “Osteopetrorickets,” Journal of Tropical Pediatrics, vol. 50, no. 3, pp. 185–186, 2004. View at Publisher · View at Google Scholar · View at Scopus
  18. V. Datta, N. C. Prajapati, M. Kamble, and S. Pathak, “Osteopetrorickets,” Indian Pediatrics, vol. 37, no. 1, pp. 98–99, 2000. View at Google Scholar · View at Scopus
  19. W. S. Sly, S. Sato, and X. L. Zhu, “Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis,” Clinical Biochemistry, vol. 24, no. 4, pp. 311–318, 1991. View at Google Scholar · View at Scopus
  20. K. Senel, M. Ugur, A. Erdal, and H. Özdemir, “Type II autosomal dominant osteopetrosis,” Rheumatology International, vol. 22, no. 3, pp. 116–118, 2002. View at Publisher · View at Google Scholar · View at Scopus