Hurler syndrome: Early diagnosis and successful enzyme replacement therapy: A new therapeutic approach. Case report;Mucopolysaccharidose de type I : intérêt d'un diagnostic et d'une enzymothérapie substitutive précoces. À propos d'un cas

Archives de Pediatrie

Volumn 15, Issue 1, 2008, Pages 45-49

  Dupont, C ^a,d   Hachem, C El ^a   Harchaoui, S ^a   Ribault, V ^a   Amiour, M ^a   Guillot, M ^a   Maire, I ^c   Froissart, R ^c   Guffon Fouilhoux, N ^b  

^a Polyclinique de Lisieux   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c groupement hospitalier est   (France)

^d CHU Clemenceau   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; LARONIDASE; LEVO IDURONIDASE;

ARTICLE; CASE REPORT; CHRONIC OTITIS MEDIA; CLINICAL FEATURE; DIAGNOSTIC VALUE; DRUG EFFICACY; EARLY DIAGNOSIS; ENZYME DEFICIENCY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME REPLACEMENT; FACE MALFORMATION; FUNNEL CHEST; HEPATOMEGALY; HUMAN; HURLER SYNDROME; INGUINAL HERNIA; KYPHOSCOLIOSIS; MALE; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; RHINOPHARYNGITIS; CHILD; DIFFERENTIAL DIAGNOSIS; FOLLOW UP; INFANT; TREATMENT OUTCOME;

CHILD; DIAGNOSIS, DIFFERENTIAL; FOLLOW-UP STUDIES; HUMANS; IDURONIDASE; INFANT; MUCOPOLYSACCHARIDOSIS I; TREATMENT OUTCOME;

EID: 38349089905     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2007.08.026     Document Type: Article

References (17)

1. Meikle P.J., Hopwood J.J., Clague A.E., et al. Prevalence of lysosomal storage disorders. JAMA 281 (1999) 249-254
2. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144 5 suppl (2004) S27-S34
3. Ashworth J.L., Biswas S., Wraith E., et al. Mucopolysaccharidoses and the eye. Surv Ophthalmol 51 (2006) 1-17
4. Braunlin E.A., Berry J.M., and Whitley C.B. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 98 (2006) 416-418
5. Cox-Brinkman J., Boelens J.J., Wraith J.E., et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 38 (2006) 17-21
6. Muenzer J., and Fisher A. Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med 350 (2004) 1932-1934
7. Wilcox W.R. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 144 5 Suppl (2004) S3-S14
8. Brady R.O. Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies. Acta Paediatr Suppl 92 (2003) 19-24
9. Van den Hout J.M., Kamphoven J.H., Winkel L.P., et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113 (2004) e448-e457
10. Kakkis E.D., Muenzer J., Tiller G.E., et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344 (2001) 182-188
11. Wraith J.E., Clarke L.A., 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 144 (2004) 581-588
12. Wraith J.E. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6 (2005) 489-506
13. Sifuentes M., Doroshow R., Hoft R., et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90 (2007) 171-180
14. Scott H.S., Litjens T., Hopwood J.J., et al. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Hum Mutat 1 (1992) 103-108
15. Scott H.S., Litjens T., Nelson P.V., et al. Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat 1 (1992) 333-339
16. Kakkis E., McEntee M., Vogler C., et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 83 (2004) 163-174
17. Kakavanos R., Turner C.T., Hopwood J.J., et al. Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 361 (2003) 1608-1613