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DOI: 10.1055/s-0038-1629155
Mitochondriale Erkrankungen im Kindesalter aus neuropädiatrischer Sicht
Mitochondrial disorders from a neuropediatric point of viewPublication History
Eingereicht am:06 July 2011
angenommen am:20 July 2011
Publication Date:
31 January 2018 (online)
Zusammenfassung
Dieser Artikel fasst die klinischen Merkmale, die Untersuchungen und das Management mitochondrialer Erkrankungen der oxidativen Phosphorylierung zusammen. Diese Störungen sind in der Regel Multisystemerkrankungen, wobei eine Beteiligung des Nervensystems sehr häufig ist. Ein beweisender Parameter steht für die Diagnostik nicht zur Verfügung, die Diagnose wird aufgrund der Konstellation von klinischen, laborchemischen und bildgebenden Befunden vermutet. Eine Sicherung der Diagnose wird bei den im Kindesalter selteneren mitochondrialen Syndromen zunächst über die mitochondriale Gene-tik in Blut oder Urin versucht, meist sind eine Gewebeentnahme und histologische und biochemische Aufarbeitung nicht zu vermeiden. Zur Therapie stehen einige pharmakologische Ansätze mit häufig ungenügender Evidenz zur Verfügung. Großes Gewicht haben die vielfältigen supportiven Maßnahmen und eine stringente Langzeitbetreuung.
Summary
The clinical picture, appropriate examinations, treatment of mitochondrial disorders of oxidative phosphorylation is described. These disorders usually involve multiple organ systems with mostly a predominant nervous system involvement. A single proving parameter is not available, a high index of suspicion is necessary combining clinical, laboratory and imaging data. In children, a mitochdrial DNA mutation screening is possible in case of a circumscribed mitochondrial syndrome. Because most pediatric mitochondrial diseases are caused by nuclear mutations, a biopsy with systematic histological and biochemical studies usually is necessary. There are some often applied pharmacological treatments, but proof of efficiency mostly is missing. Supportive management is of upmost importance for the patient and his family.
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