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Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation

Bone Marrow Transplantation volume 41, pages 905–906 (2008)Cite this article

Mucopolysaccharidosis I (MPSI) is a lysosomal storage disease caused by the deficiency of the enzyme α–L–iduronidase. This genetic disorder leads to the widespread accumulation of the glycosaminoglycans (GAGs) heparan and dermatan sulphate in all organs and tissues and manifests itself with a wide spectrum of clinical symptoms, defining the disease in three major phenotypes: MPSI H (Hurler syndrome), MPSI HS (Hurler–Scheie syndrome) or MPSI S (Scheie syndrome). MPSI H is characterized by cardiac disease, obstructive airway disease causing sleep apnoea, joint stiffness, skeletal abnormalities, corneal clouding, hepatosplenomegaly, inguinal or umbilical hernia, and a severe and rapidly progressive central nervous system involvement, which is not present in MPSI HS. MPSI S is the most attenuated form, which is sometimes diagnosed late or even not recognized.1

The first attempt at treatment took place in the 1980s, when a 1-year-old boy affected by MPSI underwent bone marrow transplantation (BMT), as described by Hobbs et al.2 Despite the high transplant-related mortality at that time, BMT was the only therapeutic choice for two decades. A unanimous consensus on the use of this procedure in children below 3 years of age with an IQ above 70 was achieved in 2003.3 Since the advent of enzyme replacement therapy in the year 2000 (Aldurazyme; recombinant human α–L–iduronidase laronidase; Genzyme Corporation, Cambridge, MA, USA; BioMarin Pharmaceuticals Inc., Novato, CA, USA), there has been another therapeutic option for the long-term treatment of the non-neurological phenotype of MPSI.4 Here, we describe the first Italian transplanted patient affected by Hurler–Scheie syndrome, at 18 years post transplant.

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References

  1. Neufeld EF, Muenzer J . The Mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol. III. McGraw-Hill: New York, 2001, pp 3421–3452.

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  2. Hobbs JR, Hugh-Jones K, Barrett AJ, Byrom N, Chambers D, Henry K et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981; 2: 709–712.

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Authors and Affiliations

  1. Department of Pediatrics, University of Padova, Padova, Italy

    C Messina, A Rampazzo, S Cesaro, C Monciotti, N Gasparotto, R Tomanin & M Scarpa

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  1. C Messina
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  2. A Rampazzo
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  3. S Cesaro
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  4. C Monciotti
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  5. N Gasparotto
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  6. R Tomanin
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  7. M Scarpa
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Correspondence to M Scarpa.

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Messina, C., Rampazzo, A., Cesaro, S. et al. Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation. Bone Marrow Transplant 41, 905–906 (2008). https://doi.org/10.1038/sj.bmt.1705988

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