Colombian consensus for the management of patients with hypophosphatasia
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Abstract
Hypophosphatasia (HPP) is a hereditary metabolic disease caused by mutations in the ALPL gene. Taking into account the challenges found in the adequate management of patients with HPP, an interdisciplinary consensus of experts (pediatric endocrinologists, pediatric nephrologists, pediatric orthopedists and clinical geneticists) was carried out, in order to propose recommendations of clinical utility for the diagnosis, treatment and follow up of Colombian patients with HPP. These suggestions are made in the context of the different types of presentations and the ages of the patients.
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References
2. Bianchi ML. Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 2015;26(12):2743-57. doi: 10.1007/s00198-015-3272-1.
3. Millán JL, Plotkin H. Hypophosphatasia - pathophysiology and treatment. Actual Osteol. 2012;8(3):164-82.
4. Fraser D. Hypophosphatasia. Am J Med. 1948;22(5):730-46.
5. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population. Ann Hum Genet. 2011;75(3):439-45. doi: 10.1111/j.14691809.2011.00642.x.
6. Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, et al. Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrinol Metab. 2016;101(1):334-42. doi: 10.1210/jc.2015-3462.
7. Kosnik-Infinger L, Gendron C, Gordon CB, Pan BS, van Aalst JA, Vogel TW. Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 2015;38(5):1-6. doi: 10.3171/2015.2.FOCUS14847.
8. Hofmann C, Jakob F, Seefried L, Mentrup B, Graser S, Plotkin H, et al. Recombinant Enzyme Replacement Therapy in Hypophosphatasia. Subcell Biochem. 2015;76:323-41. doi:10.1007/978-94-017-7197-9_15.
9. Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F,Simon-Bouy B, et al. Twelve novel mutations in the tissuenonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Hum Mutat. 2001;18(1):83-4.
10. Whyte MP. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. . Nat Rev Endocrinol. 2016;12(4):233-46. doi: 10.1038/nrendo.2016.14.
11. The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database [Sitio virtual]. Yvelines, Francia: University of Versailles-Saint Quentin; 2019 [actualizado 2019 en.]. Disponible en: http://www.sesep.uvsq.fr/database_hypo/Mutation.html