よくある見過ごしを回避する
低ホスファターゼ症（HPP）の臨床症状は、一般的な骨系統疾患と類似することから、
高頻度で見過ごされています1,2
アルカリフォスファターゼ（ALP）活性低下とALP基質濃度の上昇で、HPPを他の疾患と鑑別し、確定診断を行うことができます1-3
骨石灰化障害の診断時にHPPを念頭に入れることで、確定診断を行うことができます
References: 1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Mornet E, Nunes ME. Hypophosphatasia. In: Pagon RA, Bird TD, Dolan CR, Stephen K, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK1150/. Published November 20, 2007. Updated August 5, 2010. Accessed March 31, 2014. 3. 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. 4. Nield LS, Mahajan P, Joshi A, Kamat D. Rickets: not a disease of the past. Am Fam Physician. 2006;74(4):619-630. 5. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 6. Reynolds RD, Lorenc RS, Wieczorek E, Pronicka E. Extremely low serum pyridoxal 5’-phosphate in children with familial hypophosphatemic rickets. Am J Clin Nutr. 1991;53(3):698-701. 7. Tournis ST, Giannikou PV, Paspati IN, Katsalira EA, Voskaki IC, Lyritis GP. Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature. J Musculoskelet Neuronal Interact. 2005;5(2):150-154.