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Een syndroomdiagnose en dan?

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Tijdschrift voor Kindergeneeskunde

Samenvatting

In Nederland worden er per jaar ongeveer 5000 kinderen geboren met een zeldzame aandoening waarvan ongeveer 80% genetisch bepaald is. Gezien verfijning van DNA-technieken worden steeds meer ziektemakende genen gevonden. Als kinderarts komen we hier dan ook in toenemende mate mee in aanraking. In dit artikel worden de vraagstukken die deze patiënten met zich meebrengen geïnventariseerd en worden praktische handvatten aangereikt, onder andere wat betreft informatieverstrekking over de ziektebeelden en wat betreft expertisecentra.

Summary

About 5000 children are born each year in the Netherlands with a rare disease, of which about 80% with a genetic cause. As DNA techniques are improving, more and more genes are found in relation to the illness. Pediatricians increasingly meet these patients. In this paper an inventory is made of complex issues concerning these patients, and practical information is given, amongst other things about where to find up to date information on the disease and expertise centres.

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Author information

Authors and Affiliations

  1. Erasmus MC, Rotterdam, The Netherlands

    G.C.B. Bindels-de Heus &  A.S. Brooks

  2. Reinier de Graaf Gasthuis, Delft, The Netherlands

    A.P.M. van den Elzen

Authors
  1. G.C.B. Bindels-de Heus
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  2. A.P.M. van den Elzen
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  3. A.S. Brooks
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Auteurs

Mw. drs. G.C.B. Bindels-de Heus, kinderarts-EAA, Erasmus MC, Rotterdam. Mw. dr. A.P.M. van den Elzen, kinderarts, Reinier de Graaf Gasthuis, Delft. Mw. dr. A.S. Brooks, klinisch geneticus, Erasmus MC, Rotterdam.

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Bindels-de Heus, G., van den Elzen, A. & Brooks, A. Een syndroomdiagnose en dan?. TIJDSCHR. KINDERGENEESKUNDE 82, 49–52 (2014). https://doi.org/10.1007/s12456-014-0007-8

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  • DOI: https://doi.org/10.1007/s12456-014-0007-8

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