Neue Entwicklungen auf dem Gebiet der genetischen Nierenerkrankungen

Zusammenfassung

Das bessere Verständnis genetischer Nierenerkrankungen hat in den letzten zehn Jahren einen immensen Wissenszuwachs über grundlegende Funktionsmechanismen der Niere erbracht. Einblicke in pathophysiologische Grundprinzipien häufiger, teils vererbter, teils erworbener Nierenerkrankungen konnten dabei durch die Erforschung seltener genetischer Erkrankungen gewonnen werden und dienen nun als Ausgangspunkt zukünftiger Therapien. So sind für die sehr häufige autosomal dominante polyzystische Nierenerkrankung aufgrund der Ergebnisse aus der Grundlagenforschung bereits verschiedene multizentrische klinische Studien etabliert worden. Zunehmend zeigt sich außerdem der Einfluss genetischer Aspekte bei häufigen Nierenerkrankungen wie der diabetischen Nephropathie. Der vorliegende Artikel gibt einen Überblick über wesentliche aktuelle Entwicklungen auf dem Gebiet der genetischen Nierenerkrankungen.

Abstract

The improved understanding of genetic kidney diseases has given rise to a more detailed understanding of kidney function within the last decade. Insights into the pathophysiological principles of frequent kidney diseases – partly inherited, partly acquired – have been obtained by the investigation of rare genetic disorders and can now serve as a starting point for the development of novel therapeutic strategies. In this way various clinical multicenter trials, which are based on the observations made in basic science have been established for the very common autosomal dominant polycystic kidney disease. Furthermore, the influence of genetic aspects on frequent kidney diseases, e. g. diabetic nephropathy, is becoming more obvious. This article aims to give an overview over essential recent development in the field of genetic kidney diseases.

Schlüsselwörter

Genetik - vererbte Nierenerkrankungen - Podozyt - Nephrotisches Syndrom - Zilien - Zystennieren - M. Fabry

Keywords

genetics - inherited kidney diseases - podocyte - nephrotic syndrome - cilia - cystic kidney disease - M. Fabry

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