Giugno 2012 - Volume XXXI - numero 6
Aggiornamento
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
Indirizzo per corrispondenza: g.v.coppa@univpm.it
Key words: Mucopolysaccharidosis I, Lysosomial storage disorder, Metabolic disorder, Glycosaminoglycans
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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