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Ätiologische Konzepte von gastrointestinalen Fehlbildungen/Atresien

Etiological concepts of gastrointestinal malformations/atresias

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Zusammenfassung

Die Ursachen der gastrointestinalen Fehlbildungen resp. Atresien sind heterogen. Die meisten Atresien treten sporadisch auf. Bis heute wurden kein Umweltfaktor oder genetischer Defekt identifiziert, der allein einen Großteil der verschiedenen Fehlbildungen ursächlich erklären könnte. Aufgrund der Möglichkeiten moderner Array- und Exomanalysen konnten in den vergangenen 10 Jahren zahlreiche neue Krankheitsgene identifiziert werden. Wir wissen daher, dass sich einzelne ursächliche genetische Risikofaktoren geringfügig überlappen und zum gemeinsamen Auftreten von Fehlbildungen der Speiseröhre und des Enddarms führen, und dass ein großer Anteil der duodenalen Atresien im Rahmen eines zugrunde liegenden Down Syndroms vorkommt. Für die Mehrheit der intestinalen Atresien sind die genetischen Ursachen nach wie vor unklar. Eine humangenetische Beratung sollte epidemiologische Aspekte zum beobachteten Wiederholungsrisiko für die unterschiedlichen Atresien und die Erscheinung der jeweiligen Atresien (syndromal oder nichtsyndromal [isoliert]) berücksichtigen.

Abstract

The causes of gastrointestinal malformations or atresias are heterogeneous. Most atresias occur sporadically. To date, no environmental factor or genetic defect has been identified that alone could causally explain a large proportion of the various malformations. Due to the capabilities of modern array and exome analyses, numerous new disease genes have been identified in the past 10 years. It is known that a small overlap of individual causative genetic risk factors underlies the co-occurrence of malformations of the esophagus and anorectum, and that a large proportion of duodenal atresias occur in the context of an underlying Down syndrome; however, for the vast majority of intestinal atresias the genetic causes remain unclear. The human genetic counselling should consider epidemiological aspects of the observed recurrence risk for the different atresias and the appearance of each atresia (syndromic or non-syndromic, isolated).

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  1. Fachabteilung für Neonatologie und Pädiatrische Intensivmedizin, Kinder- und Jugendklinik, Uniklinikum Erlangen, Loschgestr. 15, 91054, Erlangen, Deutschland

    Heiko Reutter

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Reutter, H. Ätiologische Konzepte von gastrointestinalen Fehlbildungen/Atresien. Monatsschr Kinderheilkd 171, 497–506 (2023). https://doi.org/10.1007/s00112-023-01751-5

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