Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Konkret geht es um den Diabetes-Patienten mit kardiovaskulären Erkrankungen oder Risiken, die Herzinsuffizienz sowie die kardiovaskuläre Primär- und Sekundärprävention. Sind Sie hier schon auf dem neuesten Stand? Unsere Experten beleuchten, wo und warum das bisherige Procedere geändert werden soll und was in der Praxis sinnvoll ist. Holen Sie sich Ihr Update und 2 CME-Punkte beim MMW-Webinar am 24. April von 17.30 bis 19 Uhr. 
Erweiterte Suche
Anmelden
nach oben
Osteoporosis International
Erschienen in: Osteoporosis International 12/2015

01.12.2015 | Review Article

Hypophosphatasia: an overview of the disease and its treatment

verfasst von: M. L. Bianchi

Erschienen in: Osteoporosis International | Ausgabe 12/2015

Einloggen, um Zugang zu erhalten

Abstract

This review presents the current knowledge on hypophosphatasia, a rare genetic disease of very variable severity (from lethal to mild) and clinical presentation, caused by defective production of tissue-non-specific alkaline phosphatase (TNSALP). Hypophosphatasia can affect babies in utero as well as infants, children, and adults. The article first presents the genetics of TNSALP and its many known mutations underlying the disease. Then, it presents the epidemiology, classification, and clinical presentation of the six different forms of the disease (perinatal lethal, prenatal benign, infantile, childhood, adult, and odontohypophosphatasia) as well as the essential diagnostic clues. The last section on treatment presents a survey of the therapeutic approaches, up to the ongoing phase 2 studies of enzyme replacement therapy.
Literatur
1.
2.
Caswell AM, Whyte MP, Russell RG (1991) Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci 28:175–232PubMedCrossRef
3.
Cole DEC (2008) Hypophosphatasia update: recent advances in diagnosis and treatment. Clin Genet 73:232–235PubMedCrossRef
4.
Hofmann C, Girschick HJ, Mentrup B, Graser S, Seefried L, Liese J, Jakob F (2013) Clinical aspects of hypophosphatasia: an update. Clinic Rev Bone Miner Metab 11:60–70CrossRef
5.
6.
7.
Rockman-Greenberg C (2013) Hypophosphatasia. Pediatr Endocrinol Rev 10(Suppl 2):380–388PubMed
8.
Hoshi K, Amizuka N, Oda K, Ikehara Y, Ozawa H (1997) Immunolocalization of tissue non-specific alkaline phosphatase in mice. Histochem Cell Biol 107:183–191PubMedCrossRef
9.
Whyte MP (2010) Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann NY Acad Sci 1192:190–200PubMedCrossRef
10.
Fonta C, Negyessy L, Renaud L, Barone P (2005) Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex. J Comp Neurol 486:179–196PubMedCrossRef
11.
Miao D, Scutt A (2002) Histochemical localization of alkaline phosphatase activity in decalcified bone and cartilage. J Histochem Cytochem 50:333–340PubMedCrossRef
12.
Whyte MP, Mahuren JD, Vrabel LA, Coburn SP (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 76:752–756PubMedCentralPubMedCrossRef
13.
Narisawa S, Wennberg C, Millan JL (2001) Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization. J Pathol 193:125–133PubMedCrossRef
14.
Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W (2007) 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 40:1655–1661PubMedCrossRef
15.
Nunes ML, Mugnol F, Bica I, Fiori RM (2002) Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol 17:222–224PubMedCrossRef
16.
Yamamoto H, Sasamoto Y, Miyamoto Y, Murakami H, Kamiyama N (2004) A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. Pediatr Neurol 30:216–218PubMedCrossRef
17.
Kermer V, Ritter M, Albuquerque B, Leib C, Stanke M, Zimmermann H (2010) Knockdown of tissue nonspecific alkaline phosphatase impairs neural stem cell proliferation and differentiation. Neurosci Lett 485:208–211PubMedCrossRef
18.
Buchet R, Millán JL, Magne D (2013) Multisystemic functions of alkaline phosphatase. In: José Luis Millán (ed.). Phosphatase modulators. Methods in molecular biology. Springer Science + Business Media - Humana Press, New York, pp. 27-51. doi: 10.​1007/​978-1-62703-562-0_​3
19.
Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 263:12002–12010PubMed
20.
Smith M, Weiss MJ, Griffin CA, Murray JC, Buetow KH, Emanuel BS, Henthorn PS, Harris H (1988) Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 2:139–143PubMedCrossRef
21.
Silvent J, Gasse B, Mornet E, Sire JY (2014) Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem 289:24168–24179PubMedCentralPubMedCrossRef
22.
Griffin CA, Smith M, Henthorn PS, Harris H, Weiss MJ, Raducha M, Emanuel BS (1987) Human placental and intestinal alkaline phosphatase genes map to 2q34eq37. Am J Hum Genet 41:1025–1034PubMedCentralPubMed
23.
24.
Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M (2014) Clinical utility gene card for: hypophosphatasia—update 2013. Eur J Hum Genet 22. doi: 10.​1038/​ejhg.​2013.​177
25.
Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E (2009) 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 10:51PubMedCentralPubMedCrossRef
26.
Hu JC, Plaetke R, Mornet E, Zhang C, Sun X, Thomas HF, Simmer JP (2000) Characterization of a family with dominant hypophosphatasia. Eur J Oral Sci 108:189–194PubMedCrossRef
27.
Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, Mornet E (2008) A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet 123:429–432PubMedCrossRef
28.
Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E (2001) A molecular approach to dominance in hypophosphatasia. Hum Genet 109:99–108PubMedCrossRef
29.
Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B (2014) Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet 22:1160–1164PubMedCentralPubMedCrossRef
30.
Goseki-Sone M, Sogabe N, Fukushi-Irie M, Mizoi L, Orimo H, Suzuki T, Nakamura H, Orimo H, Hosoi T (2005) Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. J Bone Miner Res 20:773–782PubMedCrossRef
31.
Nielson CM, Zmuda JM, Carlos AS, Wagoner WJ, Larson EA, Orwoll ES, Klein RF (2012) Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density. J Bone Miner Res 27:93–103PubMedCrossRef
32.
33.
Orton NC, Innes AM, Chudley AE, Bech-Hansen NT (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A:1072–1087PubMedCrossRef
34.
Greenberg CR, Evans JA, McKendry-Smith S, Redekopp S, Haworth JC, Mulivor R, Chodirker BN (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46:286–292PubMedCentralPubMed
35.
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. Ann Hum Genet 75:439–445PubMedCrossRef
36.
Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T (2011) Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. J Hum Genet 56:166–168PubMedCrossRef
37.
Whyte MP, Essmyer K, Geimer M, Mumm S (2006) Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 148:753–758PubMedCrossRef
38.
39.
Glimcher MJ (2006) Bone: nature of the calcium phosphate crystals and cellular, structural, and physical chemical mechanisms in their formation. Rev Mineral Geochem 64:223–282CrossRef
40.
41.
Anderson HC (1995) Molecular biology of matrix vesicles. Clin Orthop Relat Res 314:266–280PubMed
42.
43.
Schinke T, McKee MD, Karsenty G (1999) Extracellular matrix calcification: where is the action? Nat Genet 21:150–151PubMedCrossRef
44.
Hessle L, Johnson KA, Anderson HC, Narisawa S, Sali A, Goding JW, Terkeltaub R, Millan JL (2002) Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 99:9445–9449PubMedCentralPubMedCrossRef
45.
Harmey D, Hessle L, Narisawa S, Johnson KA, Terkeltaub R, Millan JL (2004) Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. Am J Pathol 164:1199–1209PubMedCentralPubMedCrossRef
46.
Anderson HC, Sipe JB, Hessle L, Dhanyamraju R, Atti E, Camacho NP, Millán JL (2004) Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice. Am J Pathol 164:841–847PubMedCentralPubMedCrossRef
47.
Orimo H (2010) The mechanism of mineralization and the role of alkaline phosphatase in health and disease. J Nippon Med Sch 77:4–12PubMedCrossRef
48.
Wennberg C, Hessle L, Lundberg P, Mauro S, Narisawa S, Lerner UH, Millán JL (2000) Functional characterization of osteoblasts and osteoclasts from alkaline phosphatase knockout mice. J Bone Miner Res 15:1879–1888PubMedCrossRef
49.
Atar M, Körperich EJ (2010) Systemic disorders and their influence on the development of dental hard tissues: a literature review. J Dent 38:296–306PubMedCrossRef
50.
van den Bos T, Handoko G, Niehof A, Ryan LM, Coburn SP, Whyte MP, Beertsen W (2005) Cementum and dentin in hypophosphatasia. J Dent Res 84:1021–1025PubMedCrossRef
51.
Olsson A, Matsson L, Blomquist HK, Larsson A, Sjodin B (1996) Hypophosphatasia affecting the permanent dentition. J Oral Pathol Med 25:343–347PubMedCrossRef
52.
Beumer J III, Trowbridge HO, Silverman S Jr, Eisenberg E (1973) Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. Oral Surg Oral Med Oral Pathol 35:631–640PubMedCrossRef
53.
Brittain JM, Oldenburg TR, Burkes EJ Jr (1976) Odontohypophosphatasia: report of two cases. ASDC J Dent Child 43:106–111PubMed
54.
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S (2015) Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75:229–239PubMedCrossRef
55.
Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore) 63:12–24CrossRef
56.
Whyte MP (2001) Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 5313–5329
57.
Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B (2013) Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. Bone 55:150–157PubMedCrossRef
58.
Balasubramaniam S, Bowling F, Carpenter K, Earl J, Chaitow J, Pitt J, Mornet E, Sillence D, Ellaway C (2010) Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis 33(Suppl 3):S25–33PubMedCrossRef
59.
Watanabe A, Yamamasu S, Shinagawa T, Suzuki Y, Miyake H, Takeshita T, Orimo H, Shimada T (2007) Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. J Nippon Med Sch 74:65–69PubMedCrossRef
60.
Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O'Lague P, Coburn SP, Weaver DD, Whyte MP (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 86:410–415PubMedCrossRef
61.
Pauli RM, Modaff P, Sipes SL, Whyte MP (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86:434–438PubMedCrossRef
62.
Matsushita M, Kitoh H, Michigami T, Tachikawa K, Ishiguro N (2014) Benign prenatal hypophosphatasia: a treatable disease not to be missed. Pediatr Radiol 44:340–343PubMedCrossRef
63.
Müller HL, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, Ozono K (2000) Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 85:743–747PubMedCrossRef
64.
Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, Hersh JH, Mumm S, Whyte MP (2011) Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 26:2389–2398PubMedCrossRef
65.
Silva I, Castelão W, Mateus M, Branco JC (2012) Childhood hypophosphatasia with myopathy: clinical report with recent update. Acta Reumatol Port 37:92–96PubMed
66.
Arun R, Khazim R, Webb JK, Burn J (2005) Scoliosis in association with infantile hypophosphatasia. A case study in two siblings. Spine 30:E471–E476PubMedCrossRef
67.
Moulin P, Vaysse F, Bieth E, Mornet E, Gennero I, Dalicieux-Laurencin S, Baunin C, Tauber MT, De Gauzy JS, Salles JP (2009) Hypophosphatasia may lead to bone fragility: don't miss it. Eur J Pediatr 168:783–788PubMedCrossRef
68.
Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA (2013) Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 54:21–27PubMedCrossRef
69.
Khandwala HM, Mumm S, Whyte MP (2006) Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. Endocr Pract 12:676–681PubMedCrossRef
70.
Coe JD, Murphy WA, Whyte MP (1986) Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am 68:981–990PubMed
71.
72.
Barvencik F, Beil FT, Gebauer M, Busse B, Koehne T, Seitz S, Zustin J, Pogoda P, Schinke T, Amling M (2011) Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis. Osteoporos Int 22:2667–2675PubMedCrossRef
73.
Wüster C, Ziegler R (1992) Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia. Clin Investig 70:560–565PubMedCrossRef
74.
Sutton RA, Mumm S, Coburn SP, Ericson KL, Whyte MP (2012) "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 27:987–994PubMedCrossRef
75.
Whyte MP (2009) Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 24:1132–1134PubMedCrossRef
76.
Beck C, Morbach H, Richl P, Stenzel M, Girschick HJ (2009) How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int 29:229–238PubMedCrossRef
77.
Guañabens N, Mumm S, Möller I, González-Roca E, Peris P, Demertzis JL, Whyte MP (2014) Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters. J Bone Miner Res 29:929–934PubMedCrossRef
78.
Chapple IL (1993) Hypophosphatasia: dental aspects and mode of inheritance. J Clin Periodontol 20:615–622PubMedCrossRef
79.
Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, Wallerstein R, Muti C, Simon-Bouy B, Mornet E (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. J Med Gen 40:605–609CrossRef
80.
Royce PM, Blumberg A, Zurbrügg RP, Zimmermann A, Colombo JP, Steinmann B (1988) Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Eur J Pediatr 147:626–631PubMedCrossRef
81.
Unger S, Mornet E, Mundlos S, Blaser S, Cole DE (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur J Pediatr 161:623–626PubMedCrossRef
82.
Wyckoff MH, El-Turk C, Laptook A, Timmons C, Gannon FH, Zhang X, Mumm S, Whyte MP (2005) Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. J Clin Endocrinol Metab 90:1233–1240PubMedCrossRef
83.
Taillandier A, Sallinen S-L, Brun-Heath I, De Mazancourt P, Serre J-L, Mornet E (2005) Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. J Clin Endocrinol Metab 90:2436–2439PubMedCrossRef
84.
Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E (2008) Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn 28:993–998PubMedCrossRef
85.
Gwinn JL, Lee FA, Joshi NC, Dessai MP (1971) Radiological case of the month. Hypophosphatasia in the newborn. Am J Dis Child 122:151–152PubMed
86.
Kaplan SB, Kemp SS, Oh KS (1991) Radiographic manifestations of congenital anomalies of the skull. Radiol Clin North Am 29:195–218PubMed
87.
Glass RB, Fernbach SK, Norton KI, Choi PS, Naidich TP (2004) The infant skull: a vault of information. Radiographics 24:507–522PubMedCrossRef
88.
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, Rheinwein H, Thomas PS, Uniecke W (1976) Hypophosphatasia. Review of 24 cases. Pediatr Radiol 15:103–117CrossRef
89.
90.
Whyte MP, Wenkert D, McAlister WH, Mughal MZ, Freemont AJ, Whitehouse R, Baildam EM, Coburn SP, Ryan LM, Mumm S (2009) Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. J Bone Miner Res 24:1493–1505PubMedCrossRef
91.
Beck C, Morbach H, Wirth C, Beer M, Girschick HJ (2011) Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int 31:1315–1320PubMedCrossRef
92.
Sumner TE, Volberg FM, Karstaedt N, Ward CF, Lorentz WB (1984) Hypophosphatasia and nephrocalcinosis demonstrated by ultrasound and CT. Clin Nephrol 22:317–319PubMed
93.
Girschick HJ, Haubitz I, Hiort O, Schneider P (2007) Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine 74:263–269PubMedCrossRef
94.
Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP (1997) Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 151:1555–1561PubMedCentralPubMed
95.
Jakob F, Hofmann C, Seefried L (2012) Hypophosphatasia—upcoming treatments. Bull Group Int Rech Sci Stomatol Odontol 51:42
96.
Wenkert D, Podgornik MN, Coburn SP, Ryan LM, Mumm S, Whyte MP (2002) Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations. J Bone Miner Res 17(suppl 1):S384
97.
98.
Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, Shin YS, Seyberth HW (2006) Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 1:24. doi:10.​1186/​1750-1172-1-24 PubMedCentralPubMedCrossRef
99.
Whyte MP, Mumm S, Deal C (2007) Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 92:1203–1208PubMedCrossRef
100.
Camacho PM, Painter S, Kadanoff R (2008) Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 14:204–208PubMedCrossRef
101.
Schalin-Jäntti C, Mornet E, Lamminen A, Välimäki MJ (2010) Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab 95:5174–5149PubMedCrossRef
102.
Gagnon C, Sims NA, Mumm S, McAuley SA, Jung C, Poulton IJ, Ng KW, Ebeling PR (2010) Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrinol Metab 95:1007–1012PubMedCrossRef
103.
Laroche M (2012) Failure of teriparatide in treatment of bone complications of adult hypophosphatasia. Calcif Tissue Int 90:250PubMedCrossRef
104.
Doshi KB, Hamrahian AH, Licata AA (2009) Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report. Clin Cases Miner Bone Metab 6:266–269PubMed
105.
Deeb AA, Bruce SN, Morris AAM, Cheetham TD (2000) Infantile hypophosphatasia: disappointing results of treatment. Acta Paedriatr 89:730–743CrossRef
106.
107.
Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H (2009) Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 25:217–223PubMedCrossRef
108.
Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL (2003) Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18:624–636PubMedCrossRef
109.
Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, Mumm S, Whyte MP (2007) Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab 92:2923–2930PubMedCrossRef
110.
Tadokoro M, Kanai R, Taketani T, Uchio Y, Yamaguchi S, Ohgushi H (2009) New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr 154:924–930PubMedCrossRef
111.
Taketani T, Kanai R, Abe M, Mishima S, Tadokoro M, Katsube Y, Yuba S, Ogushi H, Fukuda S, Yamaguchi S (2013) Therapy-related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia. Pediatr Int 55:e52–5. doi:10.​1111/​ped.​12012 PubMedCrossRef
112.
Taketani T, Oyama C, Mihara A, Tanabe Y, Abe M, Hirade T, Yamamoto S, Bo R, Kanai R, Tadenuma T, Michibata Y, Yamamoto S, Hattori M, Katsube Y, Ohnishi H, Sasao M, Oda Y, Hattori K, Yuba S, Ohgushi H, Yamaguchi S (2014) Ex vivo expanded allogeneic mesenchymal stem cells with bone marrow transplantation improved osteogenesis in infants with severe hypophosphatasia. Cell Transplant
113.
Whyte MP, Valdes R Jr, Ryan LM, McAlister WH (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr 101:379–386PubMedCrossRef
114.
Weninger M, Stinson RA, Plenk H Jr, Böck P, Pollak A (1989) Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. Acta Paediatr Scand Suppl 360:154–160PubMedCrossRef
115.
Whyte MP, Habib D, Coburn SP, Tecklenburg F, Ryan L, Fedde KN, Stinson RA (1992) Failure of hyperphosphatasemia by intravenous infusion of purified placental alkaline phosphatase (ALP) to correct severe hypophosphatasia: evidence against a role for circulating ALP in skeletal mineralization. J Bone Miner Res 7(Suppl1):S155
116.
Millán JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, Gramatikova S, Terkeltaub R, Pleshko Camacho N, McKee MD, Crine P, Whyte MP (2008) Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 23:777–787PubMedCentralPubMedCrossRef
117.
McKee MD, Nakano Y, Masica DL, Gray JJ, Lemire I, Heft R, Whyte MP, Crine P, Millán JL (2011) Enzyme replacement prevents dental defects in a mouse model of hypophosphatasia. J Dent Res J Dent Res 90:470–476PubMedCrossRef
118.
Yadav MC, Lemire I, Leonard P, Boileau G, Blond L, Beliveau M, Cory E, Sah RL, Whyte MP, Crine P, Millán JL (2011) Dose response of bone-targeted enzyme replacement for murine hypophosphatasia. Bone 49:250–256PubMedCentralPubMedCrossRef
119.
Foster BL, Nagatomo KJ, Tso HW, Tran AB, Nociti FH Jr, Narisawa S, Yadav MC, McKee MD, Millán JI, Somerman MJ (2013) Tooth root dentin mineralization defects in a mouse model of hypophosphatasia. J Bone Miner Res 28:271–82PubMedCentralPubMedCrossRef
120.
Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH (2012) Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. Pediatr Pulmonol 47:917–922PubMedCrossRef
121.
Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Millán JL, Skrinar AM, Crine P, Landy H (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 366:904–913PubMedCrossRef
122.
Whyte MP, Simmons JH, Bishop N, Lutz RE, Vallée M, Melian A, Odrljin T; for the Study 003-08 Investigators (2014) Asfotase alfa: sustained efficacy and tolerability in infants and young children with life-threatening hypophosphatasia. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, Vancouver, BC, Canada, May 3-6, 2014
123.
Madson KL, Rockman-Greenberg C, Melian A, Moseley S, Odrljin T, Whyte MP; for the Study 008-10 Investigators (2014) Asfotase alfa: long-term safety and efficacy in children with hypophosphatasia. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, Vancouver, BC, Canada, May 3-6, 2014
124.
Rockman-Greenberg C, Vockley J, Harmatz P, Vallée M, Bedrosian CL, Hofmann C, Liese J (2014) Asfotase alfa improves skeletal mineralization and respiratory function in infants and young children with hypophosphatasia: results from up to 12 months’ treatment. American College of Medical Genetics & Genomics Annual Meeting, Nashville, TN, USA, March 25-29, 2014
125.
Kishnani PS, Rockman-Greenberg C, Whyte MP, Weber T, Mhanni A, Madson K, Reeves A, Mack K, Plotkin H, Kreher N, Landy H (2012) Hypophosphatasia: enzyme replacement therapy (Asfotase alfa) decreases TNSALP substrate accumulation and improves functional outcome in affected adolescents and adults. American College of Medical Genetics and Genomics Annual Meeting, Charlotte, NC, USA, March 27-31, 2012
Metadaten
Titel
Hypophosphatasia: an overview of the disease and its treatment
verfasst von
M. L. Bianchi
Publikationsdatum
01.12.2015
Verlag
Springer London
Erschienen in
Osteoporosis International / Ausgabe 12/2015
Print ISSN: 0937-941X
Elektronische ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-015-3272-1

Weitere Artikel der Ausgabe 12/2015

Osteoporosis International 12/2015 Zur Ausgabe

Original Article

Low vitamin D levels have become less common in primary hyperparathyroidism

Original Article

A phase IV, two-armed, randomized, cross-over study comparing compliance with once-a-month administration of vitamin D3 to compliance with daily administration of a fixed-dose combination of vitamin D3 and calcium during two 6-month periods

Short Communication

Oxytocin and bone status in men: analysis of the MINOS cohort

Erratum

Erratum to: Association between osteocalcin and glucose metabolism: a meta-analysis

Original Article

Glucocorticoid-induced osteoporosis management among seniors, by year, sex, and indication, 1996–2012

Original Article

Spectacular improvement in vitamin D status in elderly osteoporotic women: 8-year analysis of an osteoporotic population treated in a dedicated fracture liaison service

Arthropedia

Grundlagenwissen der Arthroskopie und Gelenkchirurgie. Erweitert durch Fallbeispiele, Videos und Abbildungen. 
» Jetzt entdecken

Neu im Fachgebiet Orthopädie und Unfallchirurgie

23.04.2024 | Leitsymptom Rückenschmerzen | Nachrichten

Ärztliche Empathie hilft gegen Rückenschmerzen

18.04.2024 | Wirbelsäulenmetastase | Nachrichten

Stereotaktische Radiatio schlägt konventionelle Bestrahlung

16.04.2024 | Spondylitis ankylosans | Nachrichten

Vorsicht mit hohen NSAR-Dosen bei ankylosierender Spondylitis!

15.04.2024 | Knie-TEP | Nachrichten

Brustkrebs in der Vorgeschichte macht Gelenkersatz komplikationsträchtiger
weitere anzeigen

Update Orthopädie und Unfallchirurgie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen
Bildnachweise