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Familiaire adenomateuze polyposis coli op de kinderleeftijd

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Tijdschrift voor Kindergeneeskunde

Samenvatting

Familiaire adenomateuze polyposis coli (FAP) is een erfelijke aandoening die gepaard gaat met het ontstaan van honderden tot duizenden darmpoliepen en darmkanker, veroorzaakt door kiembaanmutaties in het APC-gen. Vaak ontstaan poliepen al op de kinderleeftijd en zijn asymptomatisch of geven aspecifieke klachten. Op de kinderleeftijd kan FAP zich echter ook presenteren met extraintestinale verschijnselen. Hier beschrijven we het beloop, de genetische diagnostiek en counseling bij een kind met hepatoblastoom als de eerste uiting van FAP. Vervolgens wordt een overzicht van de medische, genetische en psychosociale aspecten van FAP op de kinderleeftijd gegeven. Het genetisch testen en counseling van ouders en kinderen in verband met FAP vereist specifieke expertise en dient plaats te vinden in een multidisciplinaire setting.

Summary

Familial adenomatous polyposis coli (FAP) is an inherited predisposition to develop hundreds to thousands adenomatous colorectal polyps leading to colorectal cancer, and is caused by germline mutations in the APC-gene. Polyps generally develop in childhood and are often asymptomatic or give aspecific symptoms. However, other extra-intestinal manifestations of FAP may well become manifest in childhood. Here we present a child with hepatoblastoma as the first manifestation of FAP and describe the genetic testing and counseling of him and his brother. An overview of the medical, genetic and psychosocial aspects of FAP in childhood is given. The genetic testing and counseling for FAP in children requires specific expertise and should be provided in a multidisciplinary setting.

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Authors and Affiliations

  1. www.bsl.nl

    A.A. Kattentidt-Mouravieva,  I. van Kessel,  K. Vanheusden &  J.C. Escher

  2. afdeling Klinische Genetica, Erasmus MC, Rotterdam, The Netherlands

    A. Wagner

  3. afdeling Kindergeneeskunde, Erasmus MC, Rotterdam, The Netherlands

    A. Beishuizen

Authors
  1. A.A. Kattentidt-Mouravieva
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  2. I. van Kessel
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  3. K. Vanheusden
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  4. J.C. Escher
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  5. A. Wagner
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  6. A. Beishuizen
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arts

consulent

klinisch geneticus

kinderarts-gastro-enteroloog, Centrumlocatie

kinderoncoloog-hematoloog, locatie Sophia

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Kattentidt-Mouravieva, A., van Kessel, I., Vanheusden, K. et al. Familiaire adenomateuze polyposis coli op de kinderleeftijd. TIJDSCHR. KINDERGENEESKUNDE 78, 28–33 (2010). https://doi.org/10.1007/s12456-010-0008-1

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  • DOI: https://doi.org/10.1007/s12456-010-0008-1

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