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Pädiatrie up2date 2015; 10(04): 323-340
DOI: 10.1055/s-0041-103529
Endokrinologie/Stoffwechsel
© Georg Thieme Verlag KG Stuttgart · New York

Mitochondriopathien im Kindes- und Jugendalter

Peter Freisinger
,
Christine Makowski
,
Wolfgang Sperl
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Publication Date:
03 December 2015 (online)

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Fazit

Mitochondriopathien sind angeborene Erkrankungen des Energiestoffwechsels mit einer sehr großen klinischen wie genetischen Heterogenität. Eine frühzeitige Diagnose ist wichtig für die prognostische Einordnung, die genetische Beratung der Familien und ggf. für eine adaptierte Therapie. Aufgrund der Heterogenität ist die Diagnostik schwierig und bedarf des sinnvollen Einsatzes unterschiedlicher klinischer, biochemischer und molekulargenetischer Methoden. Letztere haben sich durch die Einführung des Next Generation Sequencing enorm entwickelt. Die Therapie ist im Wesentlichen noch symptomatisch, jedoch zeichnen sich dank des zunehmenden Verständnis von Pathomechanismen neue kausale Therapieansätze ab. Die Betreuung der Patienten ist komplex, weswegen die frühzeitige Einbindung eines Spezialisten sinnvoll ist.

 

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