A concise review on hypophosphatasia with case report

 
 
 
  • Abstract
  • Keywords
  • References
  • PDF
  • Abstract


    Hypophosphatasia (HPP) is an inherited dento-osseous metabolic disease characterized by inactivating mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) which lead to a deficiency in TNSALP enzymatic activity. Low TNSALP activity results in increased levels of 3 known phosphocompound substrates: inorganic pyrophosphate (PPi), pyridoxal 5’-phosphate (PLP; the major circulating form of vitamin B6), and phosphoethanolamine (PEA). We discussed a systematic review with novel approach and a case report in which patient had multiple jaw reconstructive surgeries and early tooth loss in his childhood age but remained undiagnosed till his 60s. It should raise awareness among health care providers regarding low TNSALP and performing thorough etiological investigations which can ensure optimal clinical care and decision making for their patients by preventing complications like chondrocalcinosis, arthritis, early tooth loss, pseudo/complete fractures and pseudogout among the patients diagnosed with HPP even later in their life.


  • Keywords


    Hypophosphatasia; Inorganic Pyrophosphate; Pyridoxal 5’-Phosphate; Phosphoethanolamine; Tissue-Nonspecific Isoenzyme of Alkaline PhosPhatase.

  • References


      [1] Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP (1997) Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. American Journal of Pathology 151, 1555–1561.

      [2] Anderson HC, Sipe JB, Hessle L, Dhanyamraju R, Atti E, Camacho NP, Millan JL (2004) Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice. American Journal of Pathology 164, 841–847.http://dx.doi.org/10.1016/S0002-9440(10)63172-0.

      [3] Bianco P, Riminucci M, Gronthos S, Robey PG (2001) Bone marrow stromal stem cells: nature, biology, and potential applications. Stem Cells 19, 180–192http://dx.doi.org/10.1634/stemcells.19-3-180.

      [4] Brun-Heath I, Lia-Baldini A, Maillard S, Taillandier A, Utsch B, Nunes ME, et al (2007) Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. European Journal of Medical Genetics 50, 367-378.http://dx.doi.org/10.1016/j.ejmg.2007.06.005.

      [5] Buchet R, Millán JL, Magne D (2013) Multisystemic functions of alkaline phosphatases. Methods in Molecular Biology 1053, 27-51.http://dx.doi.org/10.1007/978-1-62703-562-0_3.

      [6] Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, et al (2007) Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts. Journal of Clinical Endocrinology & Metabolism 92, 2923-2930.http://dx.doi.org/10.1210/jc.2006-2131.

      [7] Coe JD, Murphy WA, Whyte MP (1986) Management of femoral fractures and pseudofractures in adult hypophosphatasia. Journal of Bone & Joint Surgery Am 68, 981–990.

      [8] Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H (2009) Neurosurgical aspects of childhood hypophosphatasia. Childs Nervous System 25, 217–223.http://dx.doi.org/10.1007/s00381-008-0708-3.

      [9] Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, et al. (2009) Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Medical Genetics 10, 51, http://dx.doi.org/10.1186/1471-2350-10-51.

      [10] Fraser D (1957) Hypophosphatasia. American Journal of Medicine 22, 730-746.http://dx.doi.org/10.1016/0002-9343(57)90124-9.

      [11] Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, Shin JS, Seyberth HW (2006) Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet Journal of Rare Disease 1, 24.http://dx.doi.org/10.1186/1750-1172-1-24.

      [12] Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, et al (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. Journal of Medical Genetics 40, 605-9.http://dx.doi.org/10.1136/jmg.40.8.605.

      [13] Ho AM, Johnson MD, Kingsley DM (2000) Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289, 265–270http://dx.doi.org/10.1126/science.289.5477.265.

      [14] Lepe X, Rothwell BR, Banich S, Page RC (1997) Absence of adult dental anomalies in familial hypophosphatasia. Journal of Periodontal Research 32, 375-380.http://dx.doi.org/10.1111/j.1600-0765.1997.tb00547.x.

      [15] Leung EC, Mhanni AA, Reed M, Whyte MP, Landy H, Greenberg CR (2013) Outcome of perinatal hypophosphatasia in Manitoba Mennonites: a retrospective cohort analysis. JIMD Reports 11, 73-78.http://dx.doi.org/10.1007/8904_2013_224.

      [16] Leung HW, Wong CW, Shen WY (2008) Intramedullary nailing for adult hypophosphatasia: a case report. Journal of Orthopaedic Surgery 16, 385-388.

      [17] Mornet E. The tissue nonspecific alkaline phosphatase gene mutations database. Accessed on June 5, 2016 from http://www.sesep.uvsq.fr/03_hypo_mutations.php

      [18] Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B (2011) A molecular- based estimation of the prevalence of hypophosphatasia in the European population. Annals ofHuman Genetics 75, 439-445.http://dx.doi.org/10.1111/j.1469-1809.2011.00642.x.

      [19] Mumm S, Jones J, Finnegan P, Whyte MP (2001) Hypophosphatasia: Molecular Diagnosis of Rathbun’s Original Case. Journal of bone and mineral research 16, 1724-1727.http://dx.doi.org/10.1359/jbmr.2001.16.9.1724.

      [20] Nakamura-Takahashi A, Miyake K, Watanabe A, Hirai Y, Iijima O, Miyake N et al. (2016) Treatment of hypophosphatasia by muscle-directed expression of bone-targeted alkaline phosphatase via self-complementary AAV8 vector. Molecular Therapy — Methods & Clinical Development 3, 15059.http://dx.doi.org/10.1038/mtm.2015.59.

      [21] Neer RM, Arnaud CD, Zanchetta JR, Prince R, Gaich GA, Reginster JY et al (2001) Effect of parathyroid hormone (1–34) on fractures and bone mineral density in postmenopausal women with osteoporosis. New England Journal of Medicine 344, 1434–1441.http://dx.doi.org/10.1056/NEJM200105103441904.

      [22] Pauli RM, Modaff P, Sipes SL, Whyte MP (1999) Mild hypophosphatasia mimicking severe osteogenesisimperfecta in utero: bent but not broken. American Journal of Medical Genetics 86, 434-438.http://dx.doi.org/10.1002/(SICI)1096-8628(19991029)86:5<434::AID-AJMG8>3.0.CO;2-C.

      [23] Reibel A, Maniere MC, Clauss F, Droz D, Alembik Y, Mornet E, Bloch-Zupan A (2009) Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet Journal of Rare Disease 4, 6, http://dx.doi.org/10.1186/1750-1172-4-6.

      [24] Sogabe N, Oda K, Nakamura H, Orimo H, Watanabe H, Hosoi T, Goseki-Sone M (2008) Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density. Biomedical Research 29, 213–219.http://dx.doi.org/10.2220/biomedres.29.213.

      [25] Wenkert D, Podgornik MN, Coburn SP, Ryan LM, Mumm S, Whyte MP (2002) Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations. Journal of Bone and Mineral Research 17, S384.

      [26] Whyte MP (2002) Hypophosphatasia: nature’s window on alkaline phosphatase function in man. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. 2nd ed. San Diego, CA: Academic Press; 1229–1248.http://dx.doi.org/10.1016/B978-012098652-1/50172-4.

      [27] Whyte MP, Landt M, Ryan LM et al (1995) alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5′- phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. The Journal of Clinical Investigation, 95, 1440–1445.http://dx.doi.org/10.1172/JCI117814.

      [28] Whyte MP, Leung E, Wilcox W, et al (2001) Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 4. 8th ed. New York, NY: McGraw-Hill, 5313-5329

      [29] Whyte MP, Rockman-Greenberg C, Ozono K, et al (2016) Asfotasealfa treatment improves survival for perinatal and infantile hypophosphatasia. Journal of Clinical Endocrinology & Metabolism 101, 334–342.http://dx.doi.org/10.1210/jc.2015-3462.

      [30] Whyte MP, Steven Mumm, Chad Deal (2007) Adult Hypophosphatasia Treated with Teriparatide. The Journal of Clinical Endocrinology & Metabolism 92, 1203–1208.http://dx.doi.org/10.1210/jc.2006-1902.


 

View

Download

Article ID: 6397
 
DOI: 10.14419/ijm.v4i2.6397




Copyright © 2012-2015 Science Publishing Corporation Inc. All rights reserved.