Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Medicine
Volume 2013, Article ID 891596, 4 pages
http://dx.doi.org/10.1155/2013/891596
Case Report

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

1Metabolic Diseases and Clinical Genetics Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy
2Department of Clinical Sciences, Polytechnic University of Marche, Azienda Ospedali Riuniti, Via Conca 71, 60126 Ancona, Italy
3Radiology Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy
4Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Zona Ospedaliera, Via Pansini 5, 80131 Naples, Italy

Received 13 June 2013; Accepted 8 October 2013

Academic Editor: Indraneel Bhattacharyya

Copyright © 2013 Albina Tummolo et al. 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. E. F. Neufeld and J. Muenzer, “The mucopolysaccharidoses,” in The Metabolic and Molecular Bases of Inherited Disease, C. R. Scriver, A. L. Beaudet, D. Valle, and W. S. Sly, Eds., vol. 3, pp. 3421–3452, McGraw-Hill, New York, NY, USA, 8th edition, 2001. View at Google Scholar
  2. S. Catarzi, L. Giunti, F. Papadia et al., “Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16,” Molecular Genetics and Metabolism, vol. 105, no. 3, pp. 438–442, 2012. View at Publisher · View at Google Scholar · View at Scopus
  3. C. Prat, O. Lemaire, J. Bret, L. Zabraniecki, and B. Fournié, “Morquio syndrome: diagnosis in an adult,” Joint Bone Spine, vol. 75, no. 4, pp. 495–498, 2008. View at Publisher · View at Google Scholar · View at Scopus
  4. A. Oulahiane, N. Elhaddad, H. Ouleghzal, and A. Gaouzi, “Moderated form of Morquio syndrome: an unknown cause of short stature (three case reports),” Archives de Pediatrie, vol. 18, no. 9, pp. 979–982, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. K. K. White, “Orthopaedic aspects of mucopolysaccharidoses,” Rheumatology, vol. 50, no. 5, pp. v26–v33, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. C. B. Whitley, M. D. Ridnour, K. A. Draper, C. M. Dutton, and J. P. Neglia, “Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion,” Clinical Chemistry, vol. 35, no. 3, pp. 374–379, 1989. View at Google Scholar · View at Scopus
  7. O. P. van Diggelen, H. Zhao, W. J. Kleijer et al., “A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A),” Clinica Chimica Acta, vol. 187, no. 2, pp. 131–139, 1990. View at Publisher · View at Google Scholar · View at Scopus
  8. D. Gatti, F. Antoniazzi, R. Prizzi et al., “Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study,” Journal of Bone and Mineral Research, vol. 20, no. 5, pp. 758–763, 2005. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Di Cesare, A. Di Cagno, S. Moffa et al., “A description of skeletal manifestation in adult case of morquio syndrome: radiographic and MRI appearance,” Case Reports in Medicine, vol. 2012, Article ID 324596, 6 pages, 2012. View at Publisher · View at Google Scholar
  10. J. T. Hecht, C. I. Scott Jr., T. K. Smith, and J. C. Williams, “Mild manifestations of the Morquio syndrome,” American Journal of Medical Genetics, vol. 18, no. 2, pp. 369–371, 1984. View at Google Scholar · View at Scopus
  11. A. Fujimoto and A. L. Horwitz, “Biochemical defect of non-keratan-sulfate excreting Morquio syndrome,” American Journal of Medical Genetics, vol. 15, no. 2, pp. 265–273, 1983. View at Google Scholar · View at Scopus
  12. W. Holzgreve, H. Gröbe, and K. von Figura, “Morquio syndrome: clinical findings in 11 patients with MPS IV A and 2 patients with MPS IV B,” Human Genetics, vol. 57, no. 4, pp. 360–365, 1981. View at Google Scholar · View at Scopus
  13. S. Tomatsu, S. Fukuda, A. Cooper et al., “Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene,” Human Mutation, vol. 10, pp. 368–375, 1997. View at Google Scholar
  14. A. M. Montaño, K. Sukegawa, Z. Kato et al., “Effect of “attenuated” mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase,” Journal of Inherited Metabolic Disease, vol. 30, no. 5, pp. 758–767, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. D. Rigante, P. S. Buonuomo, and P. Caradonna, “Early-onset osteoporosis with high bone turnover in children with Morquio-Brailsford syndrome,” Rheumatology International, vol. 26, no. 12, pp. 1163–1164, 2006. View at Publisher · View at Google Scholar · View at Scopus
  16. H. M. Koura, E. L. -Katoury A, N. Abdallah et al., “Bone mineral density in Egyptian children with Mucopolysaccharidoses,” Research Journal of Medicine and Medical Sciences, vol. 4, pp. 100–106, 2009. View at Google Scholar
  17. D. Rigante and P. Caradonna, “Secondary skeletal involvement in Sanfilippo syndrome,” QJM, vol. 97, no. 4, pp. 205–209, 2004. View at Publisher · View at Google Scholar · View at Scopus
  18. Z. Li, W.-S. Hou, and D. Brömme, “Collagenolytic activity of cathepsin K is specifically modulated by cartilage-resident chondroitin sulfates,” Biochemistry, vol. 39, no. 3, pp. 529–536, 2000. View at Publisher · View at Google Scholar · View at Scopus
  19. L. K. Bachrach and L. M. Ward, “Clinical review: bisphosphonate use in childhood osteoporosis,” Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 2, pp. 400–409, 2009. View at Publisher · View at Google Scholar · View at Scopus
  20. M. Whitaker, J. Guo, T. Kehoe et al., “Bisphosphonates for osteoporosis—where do we go from here?” The New England Journal of Medicine, vol. 366, p. 22, 2012. View at Publisher · View at Google Scholar
  21. C. J. Rosen and C. R. Kessenich, “Comparative clinical pharmacology and therapeutic use of bisphosphonates in metabolic bone diseases,” Drugs, vol. 51, no. 4, pp. 537–551, 1996. View at Google Scholar · View at Scopus
  22. R. Rizzoli, N. Burlet, D. Cahall et al., “Osteonecrosis of the jaw and bisphosphonate treatment for osteoporosis,” Bone, vol. 42, no. 5, pp. 841–847, 2008. View at Publisher · View at Google Scholar · View at Scopus