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L’ipofosfatasia: patogenesi, espressione clinica e terapia nelle varie età della vita

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L'Endocrinologo Aims and scope

Sommario

L’ipofosfatasia è una malattia multi-sistemica, causata da mutazioni inattivanti del gene ALPL codificante la fosfatasi alcalina, il cui quadro clinico può esordire a diverse età e progredire nel tempo. Il fenotipo clinico presenta in genere una severità inversamente correlata all’età di insorgenza. Da alcuni anni è disponibile una terapia enzimatica sostitutiva che si è dimostrata efficace e sicura, in particolare nelle forme neonatali, infantili e giovanili.

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Bibliografia

  1. Mornet E (2018) Hypophosphatasia. Metabolism 82:142–155

    Article  CAS  PubMed  Google Scholar 

  2. Mornet E, Yvard A, Taillandier A et al. (2011) A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 75:439–445

    Article  PubMed  Google Scholar 

  3. Rush ET (2018) Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis 13:116

    Article  PubMed  PubMed Central  Google Scholar 

  4. Hasegawa T, Yamamoto T, Tsuchiya E et al. (2017) Ultrastructural and biochemical aspects of matrix vesicle-mediated mineralization. Jpn Dent Sci Rev 53:34–45

    Article  PubMed  Google Scholar 

  5. Ito M, Amizuka N, Ozawa H et al. (2002) Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153–>Asp substitution, a cause of perinatal hypophosphatasia. Biochem J 361(Pt 3):473–480

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Ishida Y, Komaru K, Oda K (2011) Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. Biochim Biophys Acta 1812:326–332

    Article  CAS  PubMed  Google Scholar 

  7. Komaru K, Ishida-Okumura Y, Numa-Kinjoh N et al. (2019) Molecular and cellular basis of hypophosphatasia. J Oral Biosci 61:141–148

    Article  PubMed  Google Scholar 

  8. Whyte MP (2016) Hypophosphatasia – aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12:233–246

    Article  CAS  PubMed  Google Scholar 

  9. Wenkert D, McAlister WH, Coburn SP et al. (2011) Hypophosphatasia: non-lethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 26:2389–2398

    Article  CAS  PubMed  Google Scholar 

  10. Whyte MP, Leung E, Wilcox WR et al. (2019) Natural history of perinatal and infantile hypophosphatasia: a retrospective study. J Pediatr 209:116–124

    Article  PubMed  Google Scholar 

  11. Weber TJ, Sawyer EK, Moseley S et al. (2016) Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabolism 65:1522–1530

    Article  CAS  PubMed  Google Scholar 

  12. Hofmann C, Girschick HJ, Mentrup B et al. (2013) Clinical aspects of hypophosphatasia: an update. Clin Rev Bone Miner Metab 11:60–70

    Article  CAS  Google Scholar 

  13. Whyte MP, Mumm S, Deal C (2007) Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 92:1203–1208

    Article  CAS  PubMed  Google Scholar 

  14. Camacho PM, Painter S, Kadanoff R (2008) Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 14:204–208

    Article  PubMed  Google Scholar 

  15. Schalin-Jäntti C, Mornet E, Lamminen A et al. (2010) Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab 95:5174–5179

    Article  PubMed  Google Scholar 

  16. Whyte MP, Greenberg CR, Salman NJ et al. (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia [with supplementary appendix]. N Engl J Med 1366:904–913

    Article  Google Scholar 

  17. Whyte MP, Rockman-Greenberg C, Ozono K et al. (2016) Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrinol Metab 101:334–342

    Article  CAS  PubMed  Google Scholar 

  18. Whyte MP, Madson KL, Phillips D et al. (2016) Asfotase alfa therapy for children with hypo-phosphatasia [with on-line only supplement]. JCI Insight 1:e85971

    Article  PubMed  PubMed Central  Google Scholar 

  19. Whyte MP, Simmons JH, Moseley S et al. (2019) Hypophosphatasia: seven-year outcomes for life-threatening disease in infants and young children treated with asfotase alfa. Lancet Diabetes Endocrinol 7:93–105

    Article  CAS  PubMed  Google Scholar 

  20. Kishnani PS, Rockman-Greenberg C, Rauch F et al. (2019) Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Bone 121:149–162

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Dipartimento di Patologia Umana dell’Adulto e dell’Età Evolutiva “G. Barresi”, Università degli Studi di Messina – UOC Pediatria, AOU Policlinico “G. Martino”, Messina, Italia

    Tommaso Aversa

  2. Dipartimento di Medicina Clinica e Molecolare, Università degli Studi di Roma “La Sapienza” – UO Medicina Endocrino Metabolica – Azienda Ospedaliera Sant’Andrea, Roma, Italia

    Francesco Conti

  3. Divisione di Genetica Medica, Fondazione IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italia

    Vito Guarnieri

Authors
  1. Tommaso Aversa
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  2. Francesco Conti
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  3. Vito Guarnieri
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Corresponding author

Correspondence to Tommaso Aversa.

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Conflitti di interesse

L’autore Tommaso Aversa dichiara di non avere conflitti di interesse. L’autore Francesco Conti dichiara di avere svolto incarichi di consulenza per Alexion Farmaceutici. L’autore Vito Guarnieri dichiara di avere ricevuto un finanziamento per un progetto di ricerca dalla Alexion Farmaceutici.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

Additional information

Proposto da Rosaria M. Ruggeri.

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Aversa, T., Conti, F. & Guarnieri, V. L’ipofosfatasia: patogenesi, espressione clinica e terapia nelle varie età della vita. L'Endocrinologo 21, 257–263 (2020). https://doi.org/10.1007/s40619-020-00747-7

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  • DOI: https://doi.org/10.1007/s40619-020-00747-7

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