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Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher

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Tijdschrift voor Kindergeneeskunde

Samenvatting

De ziekte van Gaucher is een zeldzame autosomaal recessief erfelijke lysosomale stapelingsziekte die wordt veroorzaakt door deficiëntie van het lysosomale enzym glucocerebrosidase. Klinische verschijnselen treden op door stapeling van glucosylceramide, het natuurlijk substraat van het deficiënte enzym. De ziekte kent drie varianten: Gaucher type 1 wordt gekenmerkt door anemie, trombocytopenie, hepatosplenomegalie en botafwijkingen; bij de typen 2 en 3 is er tevens sprake van progressieve neurologische verschijnselen. Men spreekt ook wel van de nonneuronopathische vorm versus de neuronopathische vormen van de ziekte. De ziekte van Gaucher type 1 is goed behandelbaar met enzymvervangende therapie en, in sommige omstandigheden, met substraatreductietherapie. Het ziektebeeld wordt geïllustreerd aan de hand van een casus.

Summary

Gaucher disease is a rare autosomal recessive lysosomal storage disorder, due to a deficiency of the lysosomal enzyme glucocerebrosidase. Accumulation of its substrate in macrophages, glucosylceramide, leads to the clinical manifestations of the disorder. Three clinical subtypes are identified. Type-1 Gaucher disease is characterized by the presence of anemia, thrombocytopenia, hepatosplenomegaly and bone abnormalities. Type-2 and type-3 disease are characterized by the presence of primary neurologic disease (non-neuronopathic form versus the neuronopathic forms). Treatment modalities approved for type-1 Gaucher disease are enzyme replacement therapy and substrate reduction therapy. The disease will be illustrated by a case report.

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Authors and Affiliations

  1. www.bsl.nl

    M.H. de Ru &  F.A. Wijburg

  2. afdeling Medische Biochemie, AMC, Amsterdam, The Nederlands

    J.M.F.G. Aerts

  3. St. Antonius Ziekenhuis, Nieuwegein/Utrecht, The Nederlands

    E.D.M. Post

  4. afdeling Interne Geneeskunde, Endocrinologie en Metabolisme, AMC, Amsterdam en Lysosome Center ‘Sphinx’, Amsterdam, The Nederlands

    C.E.M. Hollak

Authors
  1. M.H. de Ru
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  2. F.A. Wijburg
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  3. J.M.F.G. Aerts
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  4. E.D.M. Post
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  5. C.E.M. Hollak
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Additional information

fellow metabole ziekten

kinderarts metabole ziekten, Emma Kinderziekenhuis

Aerts, biochemicus

Post, kinderarts

internist metabole ziekten

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de Ru, M., Wijburg, F., Aerts, J. et al. Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher. TIJDSCHR. KINDERGENEESKUNDE 78, 73–77 (2010). https://doi.org/10.1007/s12456-010-0020-5

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  • DOI: https://doi.org/10.1007/s12456-010-0020-5

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