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Mucopolysacharidose type II en type VI: de ziekten van Hunter en van Maroteaux-Lamy

  • Published:
Tijdschrift voor Kindergeneeskunde

Samenvatting

Mucopolysacharidose type II en VI zijn zeer zeldzame en tot voor kort onbehandelbare ziekten, waarbij een tekort aan specifieke lysosomale enzymen tot stapeling van glycosaminoglycanen in verschillende organen leidt. Karakteristieke kenmerken zijn onder andere een vergrote lever en milt, een navel-of liesbreuk, grove gelaatstrekken, skeletafwijkingen, bewegingsbeperking van de gewrichten, matige groei, ademhalingsproblemen en hartafwijkingen. Bij MPS II kan ook mentale retardatie voorkomen. Bij beide aandoeningen bestaan grote verschillen tussen patiënten in ernst en progressie van de ziekte. Symptomen kunnen ook relatief mild zijn, waardoor de diagnose gemakkelijk gemist kan worden. Sinds kort is enzymtherapie met idursulfase (MPS II) en galsulfase (MPS VI) beschikbaar gekomen. De ervaring met deze behandelingen is tot nu toe nog beperkt en langdurige follow-up van zowel behandelde als onbehandelde patiënten is noodzakelijk om de veiligheid, effectiviteit en doelmatigheid op de lange termijn te beoordelen. Gezien de nieuwe therapeutische mogelijkheden en om tijdig te kunnen starten met eventuele ondersteunende behandeling is een vlotte diagnose voor beide ziektebeelden van belang.

Summary

Mucopolysaccharidosis type II and VI are rare lysosomal storage disorders, caused by a deficiency of specific enzymes involved in the breakdown of glycosaminoglycans. Characteristic features include hepatosplenomegaly, hernia inguinalis and umbilicalis, coarse facial features, skeletal abnormalities, joint stiffness, limited growth and cardiorespiratory problems. Severe mental retardation may also be present in patients with MPS II. Both diseases present as a spectrum with large differences in severity and progression between patients. Symptoms may also be relatively mild; in those cases the diagnosis can easily be missed. Recently enzyme replacement therapy with idursulfase (MPS II) and galsulfase (MPS VI) became available, but experience with the treatment is still limited. Continued and structured follow-up of both treated and untreated patients is necessary to fully evaluate the long-term effects. An early diagnosis for these disorders is important given the new therapeutic possibilities and to timely initiate supportive treatment.

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Authors and Affiliations

  1. www.bsl.nl

    M.L.C. Hagemans,  M.M.M.G. Brands,  C.I. van Capelle,  W.A. Helbing &  W.F.M. Arts

  2. Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC, Rotterdam, The Nederlands

    A.T. van der Ploeg

  3. VU medisch centrum, Amsterdam, The Nederlands

    M.F. Mulder

Authors
  1. M.L.C. Hagemans
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  2. M.M.M.G. Brands
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  3. C.I. van Capelle
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  4. W.A. Helbing
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  5. W.F.M. Arts
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  6. A.T. van der Ploeg
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  7. M.F. Mulder
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Additional information

postdoc onderzoeker, arts-onderzoeker, kindercardioloog, Arts, kinderneuroloog, kinderarts metabole ziekten, kinderarts metabole ziekten, kinderarts metabole ziekten

Correspondentieadres: Prof. dr. A.T. van der Ploeg, Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC, Rotterdam

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Hagemans, M., Brands, M., van Capelle, C. et al. Mucopolysacharidose type II en type VI: de ziekten van Hunter en van Maroteaux-Lamy. TIJDSCHR. KINDERGENEESKUNDE 78, 62–69 (2010). https://doi.org/10.1007/s12456-010-0018-z

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  • DOI: https://doi.org/10.1007/s12456-010-0018-z

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