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.
|Translated title of the contribution||Mucopolysaccharidosis type I: Importance of early diagnosis in the perspective of recent therapeutical advances|
|Number of pages||10|
|Journal||Medico e Bambino|
|Publication status||Published - Jun 2012|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health