Clinical aspects of hypophosphatasia: An update

Clinical Reviews in Bone and Mineral Metabolism

Volumn 11, Issue 2, 2013, Pages 60-70

  Hofmann, C ^a   Girschick, H J ^b   Mentrup, B ^a   Graser, S ^a   Seefried, L ^a   Liese, J ^a   Jakob, F ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b VIVANTES HOSPITAL   (Germany)

Author keywords

Alkaline phosphatase; Bone mineralization; Hypophosphatasia

Indexed keywords

ALKALINE PHOSPHATASE; ASFOTASE ALFA; DICLOFENAC; ENZYME INHIBITOR; NONSTEROID ANTIINFLAMMATORY AGENT; PROSTAGLANDIN SYNTHASE INHIBITOR; PYRIDOXAL 5 PHOSPHATE; PYROPHOSPHATE;

ADULTHOOD; ARTICLE; BONE DISEASE; BONE METABOLISM; BONE MINERALIZATION; DESTRUCTION; ENZYME REPLACEMENT; FRACTURE HEALING; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; HYPOPHOSPHATASIA; INFLAMMATION; LIFE EXPECTANCY; MINERALIZATION; NUTRITION; OSTEOPENIA; OSTEOPOROSIS; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PHOSPHATE INTAKE; PHYSICAL ACTIVITY; QUALITY OF LIFE; RESPIRATORY FUNCTION; SEIZURE; STILLBIRTH; TISSUES; TOOTH;

EID: 84884353430     PISSN: 15348644     EISSN: 15590119     Source Type: Journal    
DOI: 10.1007/s12018-013-9139-0     Document Type: Article

References (43)

1. Rathbun JC. Hypophosphatasia; a new developmental anomaly. Am J Dis Child. 1948;75(6):822-31.
2. Mornet E, Beck C, Bloch-Zupan A, Girschick H, Le Merrer M. Clinical utility gene card for: hypophosphatasia. Eur J Hum Genet. 2011. doi: 10.1038/ejhg.2010.170.
3. Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet. 1999;8(6):1039-46. (Pubitemid 29250891)
4. Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, et al. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 2009;10:51.
5. Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, et al. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet. 2008;123(4):429-32.
6. Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, et al. A molecular approach to dominance in hypophosphatasia. Hum Genet. 2001;109(1):99-108. (Pubitemid 32743199)
7. Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-46.
8. 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.
9. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA. 1988;85(20):7666-9.
10. Jemmerson R, Low MG. Phosphatidylinositol anchor of HeLa cell alkaline phosphatase. Biochemistry. 1987;26(18):5703-9.
11. Seetharam B, Tiruppathi C, Alpers DH. Hydrophobic interactions of brush border alkaline phosphatases: the role of phosphatidyl inositol. Arch Biochem Biophys. 1987;253(1):189-98. (Pubitemid 17025224)
12. Anh DJ, Dimai HP, Hall SL, Farley JR. Skeletal alkaline phosphatase activity is primarily released from human osteoblasts in an insoluble form, and the net release is inhibited by calcium and skeletal growth factors. Calcif Tissue Int. 1998;62(4):332-40. (Pubitemid 28139317)
13. Anh DJ, Eden A, Farley JR. Quantitation of soluble and skeletal alkaline phosphatase, and insoluble alkaline phosphatase anchor-hydrolase activities in human serum. Clin Chim Acta. 2001;311(2):137-48. (Pubitemid 32889699)
14. Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U, Meisel C, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010;42(10):827-9.
15. Girschick HJ, Schneider P, Kruse K, Huppertz HI. Bone metabolism and bone mineral density in childhood hypophosphatasia. Bone. 1999;25(3):361-7. (Pubitemid 29406063)
16. van den Bos T, Handoko G, Niehof A, Ryan LM, Coburn SP, Whyte MP, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005;84(11):1021-5. (Pubitemid 43828149)
17. Girschick HJ, Seyberth HW, Huppertz HI. Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone. 1999;25(5):603-7. (Pubitemid 29469468)
18. Whyte MP, Landt M, Ryan LM, Mulivor RA, Henthorn PS, Fedde KN, et al. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5′-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J Clin Invest. 1995;95(4):1440-5.
19. Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-13.
20. Beck C, Morbach H, Richl P, Stenzel M, Girschick HJ. How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int. 2009;29(3):229-38.
21. Yadav MC, Simao AM, Narisawa S, Huesa C, McKee MD, Farquharson C, et al. Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: a unified model of the mechanisms of initiation of skeletal calcification. J Bone Miner Res. 2011;26(2):286-97.
22. Mornet E. Hypophosphatasia. Orphanet J Rare Dis. 2007;2:40.
23. Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Berg F, et al. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. Bone. 2013. doi: 10.1016/j.bone.2013.02.017.
24. Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O'Lague P, et al. Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet. 1999;86(5):410-5. (Pubitemid 29503191)
25. Pauli RM, Modaff P, Sipes SL, Whyte MP. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet. 1999;86(5):434-8. (Pubitemid 29503196)
26. Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, et al. Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res. 2011;26(10):2389-98.
27. Reibel A, Maniere MC, Clauss F, Droz D, Alembik Y, Mornet E, et al. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 2009;4:6.
28. Abbracchio MP, Burnstock G. Purinoceptors: are there families of P2X and P2Y purinoceptors? Pharmacol Ther. 1994;64(3):445-75. (Pubitemid 24381231)
29. Burnstock G, Krugel U, Abbracchio MP, Illes P. Purinergic signalling: from normal behaviour to pathological brain function. Prog Neurobiol. 2011;95(2):229-74.
30. Sowa NA, Taylor-Blake B, Zylka MJ. Ecto-5′-nucleotidase (CD73) inhibits nociception by hydrolyzing AMP to adenosine in nociceptive circuits. J Neurosci. 2010;30(6):2235-44.
31. Zimmermann H, Zebisch M, Strater N. Cellular function and molecular structure of ecto-nucleotidases. Purinergic Signal. 2012;8(3):437-502.
32. Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, et al. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis. 2006;1:24.
33. Coburn SP, Mahuren JD, Jain M, Zubovic Y, Wortsman J. Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J Clin Endocrinol Metab. 1998;83(11):3951-7. (Pubitemid 28513578)
34. Camacho PM, Painter S, Kadanoff R. Treatment of adult hypophosphatasia with teriparatide. Endocr Pract. 2008;14(2):204-8.
35. Doshi KB, Hamrahian AH, Licata AA. Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report. Clin Cases Miner Bone Metab. 2009;6(3):266-9.
36. Whyte MP, Mumm S, Deal C. Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab. 2007;92(4):1203-8. (Pubitemid 46556386)
37. Deeb AA, Bruce SN, Morris AA, Cheetham TD. Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatr. 2000;89(6):730-3. (Pubitemid 30624922)
38. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190-200.
39. Whyte MP, Valdes R Jr, Ryan LM, McAlister WH. Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr. 1982;101(3):379-86. (Pubitemid 12061455)
40. Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab. 2007;92(8):2923-30. (Pubitemid 47236351)
41. Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 2003;18(4):624-36. (Pubitemid 36899312)
42. Millan JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res. 2008;23(6):777-87. (Pubitemid 351768796)
43. Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009;25(2):217-23.