Bedeutung der Genetik in der Kindernephrologie

Zusammenfassung

Bei vielen kindernephrologischen Erkrankungen ist heutzutage eine genetische Ursache bekannt. Unter Verwendung neuester Technologien in der Humangenetik können diese Erkrankungen frühzeitig diagnostiziert, invasive klinisch-diagnostische Eingriffe bei diesen Patienten ggf. vermieden, mögliche Komplikationen der Erkrankungen durch entsprechende Therapie verhindert oder hinausgezögert und Kosten für die Therapien signifikant reduziert werden. Die molekulargenetische Untersuchung wird in den kommenden Jahren einen zunehmenden Stellenwert in der Kindernephrologie einnehmen. Im Folgenden wird ein Überblick über genetische Aspekte wesentlicher Erkrankungen in der Kindernephrologie sowie über empfohlene Untersuchungstechniken gegeben.

Summary

For many pediatric kidney diseases genetic factors have been identified as causative. Using newest technologies in the field of human genetics these diseases can be diagnosed at early stages, invasive diagnostic procedures in these patients can be avoided if applicable, possible complications of the disease can be prevented or postponed, and therapy costs can be significantly reduced. In the upcoming years, the molecular examination will play a significant role in pediatric nephrology. The aim of this article is to give an overview on genetic aspects of several pediatric kidney diseases as well as on recommended.

Schlüsselwörter

Hereditäre Nierenerkrankungen - Genetik - molekulargenetische Untersuchungsmethoden

Keywords

Hereditary kidney diseases - genetics - molecular diagnostics

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