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Erschienen in: Die Nephrologie 6/2020

18.11.2020 | Pädiatrische Nephrologie | CME

Genetik in der Nephrologie

verfasst von: Korbinian Maria Riedhammer, Christoph Schmaderer, Uwe Heemann, Julia Hoefele

Erschienen in: Die Nephrologie | Ausgabe 6/2020

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Zusammenfassung

Wenn man über Genetik in der Nephrologie spricht, so gilt es, multifaktorielle Erkrankungen mit genetischer Komponente von klar erblichen Erkrankungen zu unterscheiden. Die erblichen Nierenerkrankungen sind genetisch sehr heterogen, wichtige Vertreter sind z. B. das Alport-Syndrom, die erblichen Podozytopathien und die Ziliopathien. Bei der genetischen Untersuchung sind die Bestimmungen des Gendiagnostikgesetzes zu beachten. Erbliche Nierenerkrankungen können einen stark überlappenden Phänotyp haben, und es ist wichtig, klinische Verdachtsdiagnosen, die mit der Testung der üblichen Gene nicht gesichert werden können, auch zu hinterfragen. Im Zweifel sollte ein (nephrogenetisch erfahrener) Humangenetiker hinzugezogen werden. Eine korrekte genetische Diagnose kann erhebliche Auswirkungen auf Prognose, Management und Therapie haben.
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Metadaten
Titel
Genetik in der Nephrologie
verfasst von
Korbinian Maria Riedhammer
Christoph Schmaderer
Uwe Heemann
Julia Hoefele
Publikationsdatum
18.11.2020
Verlag
Springer Medizin
Erschienen in
Die Nephrologie / Ausgabe 6/2020
Print ISSN: 2731-7463
Elektronische ISSN: 2731-7471
DOI
https://doi.org/10.1007/s11560-020-00463-1