www.pediatriepropraxi.cz / Pediatr. praxi. 2023;24(5):299-303 / PEDIATRIE PRO PRAXI 303 PŘEHLEDOVÉ ČLÁNKY Hypofosfatázie a její diferenciální diagnóza LITERATURA 1. Villa-Suarez JM, Garcia-Fontana CG, Andujar-Vera F, et al. Hypophosphatasia: A unique disorder of bone mineralization. Int J Mol Sci. 2021;22:4303. 2. Mornet E. Hypophosphatasia. Metabolism. 2018;82:142-155. 3. Millan JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98:398-416. 4. Whyte MP. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev. 1994;15:439-461. 5. Whyte MP. Hypophosphatasia. In: Scriver CR ed. The Metabolic Basis of Inherited Disease. McGraw-Hill 1995:4095-4111. 6. Whyte MP. Hypophosphatasia – aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12:233-246. 7. Mornet E. Hypophosphatasia. Metabolism. 2017 Sep 20. pii: S0026-0495(17)30229-9. doi: 10.1016. 8. Mornet E, Taillandier A, Domingues C, et al. 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Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys. Metabolism. 2016;65:1522-1530. 16. Iqbal U, Anwar H, Chaudhary A, et al. Recurrent Metatarsal Fractures in Postmenopausal Woman With Low Serum Alkaline Phosphatase: A Rare Diagnosis Not to Miss. J Investig Med High Impact Case Rep. 2017;5:2324709617718851. doi: 10.1177/2324709617718851. eCollection 2017 Jul-Sep. 17. Guañabens N, Blanch J, Martínez-Díaz-Guerra G, et al. Identification of hypophosphatasia in a clinical setting: Clinical manifestations and diagnostic recommendations in adult patients. Med Clin (Barc). 2017: S0025-7753(17)305274. doi: 10.1016/j.medcli.2017.06.040. [Epub ahead of print]. 18. Braunstein NA. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia. Bone Rep. 2015;4:1-4. 19. Schmidt T, Mussawy H, Rolvien T, et al. Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. Osteoporos Int. 2017 May 25. doi: 10.1007/s00198-017-4087-z. 20. Yavuz U, Sökücü S, Demir B, et al. An unusual stress fracture in an archer with hypophosphatasia. Case Rep Orthop. 2013;2013:1-3. 21. Tenorio J, Álvarez I, Riancho-Zarrabeitia L, et al. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. Am J Med Genet. 2017;173:601-610. 22. Hayashi-Sakai S, Numa-Kinjoh N, Sakamoto M, et al. Hypophosphatasia: Evaluation of Size and Mineral Density of Exfoliated Teeth. J Clin Pediatr Dent. 2016;40(6):496-502. 23. Reibel A, Manière MC, Clauss F, et al. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 2009 ;4:6. doi: 10.1186/1750-1172-4-6. 24. Mori M, DeArmey SL, Weber TJ, et al. Case series: Odontohypophosphatasia or missed diagnosis of childhood/ adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth. Bone Rep. 2016;5:228-232. 25. Bangura A, Wright L, Shuler T Hypophosphatasia: Current Literature for Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment. Cureus. 2020;12:e8594. 26. Borg SA, Bishop NJ. New diagnostic modalities and emerging treatments for neonatal bone disease. Early Hum Dev. 2018;126:32-37. 27. Castells L, Cassanello P, Muñiz F, et al. Neonatal lethal hypophosphatasia: A case report and review of literature. Medicine (Baltimore). 2018;97:e13269. 28. Offiah AC, Vockley J, Munns CF, et al. Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 2019;49:3-22. 29. Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366:904-913. 30. Whyte MP, Rockman-Greenberg C, Ozono K, et al. Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrinol Metab. 2016;101:334-342. 31. Kitaoka T, Tajima T, Nagasaki K, et al. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. Clin Endocrinol (Oxf). 2017 Apr 4. doi: 10.1111/cen.13343. [Epub ahead of print]. 32. Whyte MP. Hypophosphatasia: An overview for 2017. Bone. 2017 Feb 24. pii: S8756-3282(17)30056-X. doi: 10.1016/j. bone.2017.02.011. 33. Whyte MP. Hypophosphatasia: Enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 2017;32:667-675. doi: 10.1002/jbmr.3075. Epub 2017 Jan 31. 34. Righetti M, Wach J, Desmarchelier R, et al. Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures. Joint Bone Spine. 2017; pii: S1297-319X(17)30206-3. doi: 10.1016/j.jbspin.2017.12.001. 35. Bhattacharyya T, Jha S, Wang H, et al. Hypophosphatasia and the risk of atypical femur fractures: a case-control study. BMC Musculoskelet Disord. 2016;17:332. doi: 10.1186/ s12891-016-1191-8. 36. Whyte MP. Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 2009;24:1132-1134. www.pediatriepropraxi.cz Pediatrie pro praxi
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