重篤な症状は、年齢を問わず発症します

低ホスファターゼ症(HPP)では、年齢を問わず、生命にかかわるさまざまな骨格系や全身性の症状の発症リスクがあります1-7

骨格系や全身性の症状の発症リスク

References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Baumgartner-Sigl S, Haberlandt E, Mumm S, et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone. 2007;40(6):1655-1661. 3. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170. 4. Balasubramaniam S, Bowling F, Carpenter K, et al. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5-phosphate availability. J Inherit Metab Dis. 2010;33(3):25-33. 5. Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J. Myopathy with hypophosphatasia. Arch Dis Child. 1990;65(1):130-131. 6. Whyte MP, Murphy WA, Fallon MD. Adult hypophosphatasia with chondrocalcinosis and arthropathy: variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med. 1982;72(4):631-641. 7. Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP. Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine. 1984;63(1):12-24. 8. Whyte MP, Greenberg CR, Salman N, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913. 9. Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009;25(2):217-223. 10. Beck C, Morbach H, Wirth C, Beer M, Girschick HJ. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int. 2011;31(10):1315-1320. 11. Barvencik F, Beil FT, Gebauer M, et al. Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis. Osteoporos Int. 2011;22(10):2667-2675. 12. Data on file, Alexion Pharmaceuticals. 13. Whyte M, Greenberg CR, Kishnani P, et al. Fracture burden in children and adults with hypophosphatasia. Poster presented at: 39th Annual Congress of the European Calcified Tissue Society (ECTS); May 19-23, 2012; Stockholm, Sweden. 14. Coe JD, Murphy WA, Whyte MP. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am. 1986;68(7):981-990. 15. Kozlowski K, Sutcliffe J, Barylak A, et al. Hypophosphatasia: review of 24 cases. Pediatr Radiol. 1976;5(2):103-117. 16. Moulin P, Vaysse F, Bieth E, et al. Hypophosphatasia may lead to bone fragility: don’t miss it. Eur J Pediatr. 2009;168(7):783-788. 17. Weinstein RS, Whyte MP. Heterogeneity of adult hypophosphatasia: report of severe and mild cases. Arch Intern Med. 1981;141(6):727-731. 18. Silver MM, Vilos GA. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol. 1988;8(5):483-493. 19. Teber S, Sezer T, Kafaki M, et al. Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency. Indian J Pediatr. 2008;75(2):186-188. 20. Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr. 2011;100(7):e43-e46. 21. Chuck AJ, Pattrick MG, Hamilton E, Wilson R, Doherty M. Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis.1989;48(7):571-576.