Aggiornamento
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
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
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.
Classificazione MeSH
Bibliografia
1. Matalon R, Dorfman A. Hurler’s syndrome,
an !-L-iduronidase deficiency. Biochem Biophys
Res Commun 1972;47:959-64.
2. Pastores GM, Arn P, Beck M, et al. The
MPS I registry: design, methodology, and
early findings of a global disease registry for
monitoring patients with Mucopolysaccharidosis
Type I. Mol Genet Metab 2007;91:37-47.
3. Bach G, Friedman R, Weissmann B, Neufeld
EF. The defect in the Hurler and Scheie
syndromes: deficiency of !-L-iduronidase.
Proc Natl Acad Sci U S A 1972;69:2048-51.
4. Muenzer J, Wraith JE, Clarke LA; International
Consensus Panel on Management and
Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis
I: management and treatment
guidelines. Pediatrics 2009;123:19-29.
5. Terlato NJ, Cox GF. Can mucopolysaccharidosis
type I disease severity be predicted based
on a patient’s genotype? A comprehensive
review of the literature. Genet Med 2003;5:
286-94.
6. Thomas JA, Beck M, Clarke JT, Cox GF.
Childhood onset of Scheie syndrome, the attenuated
form of mucopolysaccharidosis I. J
Inherit Metab Dis 2010;33:421-7.
7. Boelens JJ, Prasad VK, Tolar J, Wynn RF,
Peters C. Current international perspectives
on hematopoietic stem cell transplantation for
inherited metabolic disorders. Pediatr Clin
North Am 2010;57:123-45.
8. de Ru MH, Boelens JJ, Das AM, et al. Enzyme
replacement therapy and/or hematopoietic
stem cell transplantation at diagnosis in patients
with mucopolysaccharidosis type I: results
of a European consensus procedure.
Orphanet J Rare Dis 2011;6:55.
9. Kakkis ED, Muenzer J, Tiller GE, et al.
Enzyme-replacement therapy in mucopolysaccharidosis
I. N Engl J Med 2001;344:182-8.
10. Wraith JE, Clarke LA, Beck M, et al. Enzyme
replacement therapy for mucopolysaccharidosis
I: a randomized, double-blinded, placebo-
controlled, multinational study of recombinant
human alpha-L-iduronidase (laronidase).
J Pediatr 2004;144:581-8.
11. Clarke LA, Wraith JE, Beck M, et al. Longterm
efficacy and safety of laronidase in the
treatment of mucopolysaccharidosis I. Pediatrics
2009;123:229-40.
12. Gabrielli O, Clarke LA, Bruni S, Coppa GV.
Enzyme-replacement therapy in a 5-month-old
boy with attenuated presymptomatic MPS I:
5-year follow-up. Pediatrics 2010;125:e183-7.
13. Walker RW, Darowski M, Morris P, Wraith
JE. Anaesthesia and mucopolysaccharidoses.
A review of airway problems in children.
Anaesthesia 1994;49:1078-84.
14. Young EP. Prenatal diagnosis of Hurler disease
by analysis of alpha-iduronidase in chorionic
villi. J Inherit Metab Dis 1992;15:224-30.
15. Reuser AJ, Verheijen FW, Bali D, et al. The
use of dried blood spot samples in the diagnosis
of lysosomal storage disorders-current status
and perspectives. Mol Genet Metab 2011;
104:144-8.
16. Cartier N, Aubourg P. Hematopoietic stem
cell gene therapy in Hurler syndrome, globoid
cell leukodystrophy, metachromatic leukodystrophy
and X-adrenoleukodystrophy. Curr
Opin Mol Ther 2008;10:471-8.
17. Metcalf JA, Ma X, Linders B, et al. A selfinactivating
gamma-retroviral vector reduces
manifestations of mucopolysaccharidosis I in
mice. Mol Ther 2010;18:334-42.
18. Herati RS, Ma X, Tittiger M, Ohlemiller
KK, Kovacs A, Ponder KP. Improved retroviral
vector design results in sustained expression
after adult gene therapy in mucopolysaccharidosis
I mice. J Gene Med 2008;10:972-82.
19. Herati RS, Knox VW, O’Donnell P, D’Angelo
M, Haskins ME, Ponder KP. Radiographic
evaluation of bones and joints in mucopolysaccharidosis
I and VII dogs after neonatal
gene therapy. Mol Genet Metab 2008;
95:142-51.
Corrispondenza: g.v.coppa@univpm.it