Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982.
In collaborazione con l'Associazione Culturale Pediatri.
G. Andria, M. Caniglia, M. Castorina, G.V. Coppa,
M. Di Rocco, C. Dionisi Vici, O. Gabrielli, E. Lanino,
C. Messina, F. Papadia, R. Parini, A. Rovelli, M. Scarpa,
M. Sibilio, M. Spada. LA MUCOPOLISACCARIDOSI DI TIPO I: L’IMPORTANZA DI UNA DIAGNOSI PRECOCE AI FINI DEI RECENTI PROGRESSI TERAPEUTICI. Medico e Bambino 2012;31:361-370 https://www.medicoebambino.com/?id=1206_361.pdf
La mucopolisaccaridosi di tipo I: l’importanza di una diagnosi precoce ai fini dei recenti progressi terapeutici
Mucopolysaccharidosis type I: importance of early diagnosis in the perspective of recent therapeutical advances
Generoso Andria1, Maurizio Caniglia2, Mario Castorina3, Giovanni Valentino Coppa4, Maja Di Rocco5,
Carlo Dionisi Vici6, Orazio Gabrielli4, Edoardo Lanino7, Chiara Messina8, Francesco Papadia9,
Rossella Parini10, Attilio Rovelli11, Maurizio Scarpa12, Michelina Sibilio1, Marco Spada13
1Dipartimento di Pediatria, Università Federico II, Napoli; 2Oncoematologia Pediatrica e Trapianto di Midollo, Ospedale Santa Maria della Misericordia, Perugia; 3Dipartimento di Scienze Pediatriche e Neuroscienze dello Sviluppo, Pediatria, Policlinico Universitario “A Gemelli”, Università Cattolica del S. Cuore, Roma; 4Clinica Pediatrica, Dipartimento di Scienze Cliniche Specialistiche, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona; 5UOS Malattie Rare, Istituto Giannina Gaslini, IRCCS, Genova; 6UO Patologia Metabolica, Dipartimento di Medicina Pediatrica, Ospedale Pediatrico
Bambino Gesù, Roma; 7UOS Trapianto di Cellule Staminali Emopoietiche, Istituto Giannina Gaslini, IRCCS, Genova; 8US Trapianto di Midollo osseo, Dipartimento di Pediatria, Università di Padova; 9UO Malattie Metaboliche - AO Universitaria “Policlinico” - PO Pediatrico “Giovanni XXIII”, Bari; 10Centro “Fondazione Mariani” per le malattie metaboliche dell’infanzia, UOS Malattie Metaboliche Rare, Ospedale San Gerardo, Monza; 11US Centro Trapianto di Midollo Osseo, Fondazione MBBM,
Clinica Pediatrica dell’Università di Milano-Bicocca, Ospedale San Gerardo, Monza; 12Dipartimento di Pediatria, Università di Padova; 13Clinica Pediatrica, Università di Torino
Giugno 2012 - pagg. 361 -370
Abstract
The present contribution proposes a monograph on Mucopolysaccharidosis type I for
the paediatrician. Mucopolysaccharidosis I is one of the most frequent forms of lysosomal
storage diseases and is characterized by a wide range of clinical presentations. Recently,
the new advances in the field have allowed a more clear understanding of the
complex pathogenic mechanisms that underlie the varied spectrum of clinical presentation
of this disease. Moreover, the possibility of effective specific therapeutic interventions
has been demonstrated. If the therapeutic interventions are immediately applied
upon the disease diagnosis, they are able to significantly modify the natural progression
of the disease. It is therefore mandatory for the paediatrician to acquire all the necessary
elements for an early recognition of the first disease hallmarks, as well as to be
well-informed on the currently available diagnostic procedures and on the location of
specialized reference centres. A delay in the diagnosis can entail a significant aggravation
of the prognosis, since the damages caused by the disease, once established, are
irreversible. The data here presented about Mucopolysaccharidosis I also represent a
suitable model approach to other lysosomal storage diseases and in particular to those
for which there are therapeutic options. Indeed, paediatricians have recently realized
that they will very likely deal with rare diseases.
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