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Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry

  • Published:
Tijdschrift voor Kindergeneeskunde

Samenvatting

De ziekte van Fabry is een zeldzame X-gebonden lysosomale stapelingsziekte. Vanwege de zeldzaamheid van de ziekte en de atypische verschijnselen wordt de diagnose meestal pas laat gesteld. Op volwassen leeftijd leidt de ziekte tot aanzienlijke morbiditeit en mortaliteit. Gezien de nieuwe therapeutische mogelijkheden en veranderende inzichten is vroege opsporing van de ziekte van belang. De kenmerkende klachten en verschijnselen op de kinderleeftijd zijn: (1) hevige pijnklachten in de handen en voeten (acroparesthesieën), (2) het onvermogen om goed te zweten (hypohidrosis of anhidrosis), (3) kenmerkende huidafwijkingen (angiokeratomen) en (4) gastro-intestinale klachten (buikpijn en diarree). Het ziektebeeld wordt geïllustreerd met een casus.

Summary

Fabry disease is a rare X-linked lysosomale storage disorder, causing significant morbidity and a reduced life-span in adults. Diagnosis of Fabry disease is often delayed. However, early diagnosis is warranted to initiate timely therapeutic intervention and follow-up. In children, Fabry disease is characterized by (1) severe pains in hands and feet (acroparesthesia), (2) inability to sweat (anhydrosis), (3) angiokeratoma, and (4) gastro-intestinal complaints (abdominal pain and diarrhea). The disease will be illustrated by a case report.

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Author information

Authors and Affiliations

  1. Emma Kinderziekenhuis, Amsterdam, The Nederlands

    M.G. Bouwman,  F.A. Wijburg,  S.M. Rombach &  G.E. Linthorst

  2. afdeling Interne Geneeskunde, Endocrinologie en Metabolisme, Amsterdam, The Nederlands

    C.E.M. Hollak

  3. afdeling Medische Biochemie, Amsterdam Lysosome Center ‘Sphinx’, AMC, Amsterdam, The Nederlands

    J.M.F.G. Aerts

Authors
  1. M.G. Bouwman
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  2. F.A. Wijburg
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  3. S.M. Rombach
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  4. G.E. Linthorst
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  5. C.E.M. Hollak
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  6. J.M.F.G. Aerts
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Additional information

arts-onderzoeker

kinderarts metabole ziekten, Emma Kinderziekenhuis

internist

internist metabole ziekten

biochemicus

Correspondentieadres: Prof. dr. F.A. Wijburg, onderafdeling Metabole Ziekten, Emma Kinderziekenhuis, AMC, Amsterdam

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Bouwman, M., Wijburg, F., Rombach, S. et al. Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry. TIJDSCHR. KINDERGENEESKUNDE 78, 69–73 (2010). https://doi.org/10.1007/s12456-010-0019-y

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  • DOI: https://doi.org/10.1007/s12456-010-0019-y

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