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Der Patient mit Ornithintranscarbamylasemangel

Anästhesiologisches und intensivmedizinisches Management

Patients with ornithine transcarbamylase deficiency

Anaesthesiological and intensive care management

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Zusammenfassung

Der Ornithintranscarbamylase- (OTC-)Mangel ist der häufigste angeborene Defekt des Harnstoffzyklus. Patienten mit dieser Erkrankung sind zeitlebens durch eine metabolische Dekompensation mit Hyperammonämie und konsekutiver Entwicklung einer akuten Enzephalopathie mit Hirnödem bedroht. Auslösende Faktoren für die Erstmanifestation bzw. eine Dekompensation bei bekanntem OTC-Mangel stellen katabole Stoffwechsellagen mit gesteigertem Proteinmetabolismus, etwa durch Fasten oder Nahrungsumstellungen, Proteinexzesse, Infektionen, bestimmte Medikamente sowie Stress infolge Geburt, Trauma, Operation und Narkose dar. Hieraus ergibt sich eine besondere Bedeutung dieser Erkrankung für die perioperative Medizin. Im Folgenden soll daher anhand der Kasuistik einer Erstmanifestation und der Kasuistik einer problemlosen Narkose bei bekanntem OTC-Mangel das anästhesiologische bzw. intensivmedizinische Management von Patienten mit OTC-Mangel besprochen werden.

Abstract

Ornithine transcarbamylase deficiency (OTCD) is the most common inborn urea cycle disorder. Patients with OTCD are at risk of acute metabolic decompensation with hyperammonemia and subsequent encephalopathy, coma and death. Symptoms may be triggered by infections, drugs and stress, evoked by trauma, pain, fear, surgery and anaesthesia or by episodes of protein catabolism, i.e. fasting-induced, post partum or during gastrointestinal bleeding. Several specific considerations must be made for anaesthetic and intensive care management in patients with this disease in order to avoid metabolic decompensation. We report the intensive care management of the first manifestation of late-onset OTCD in a 16-year-old girl and a course of inconspicuous general anaesthesia with midazolam, s-ketamine, fentanyl and isoflurane in a 22-year-old girl with known OTCD.

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Authors and Affiliations

  1. Klinik für Anästhesiologie, FAU, Erlangen-Nürnberg

    J. Schmidt, A. Irouschek, T. Birkholz, S. Kröber & S. Albrecht

  2. Kinder- und Jugendklinik, FAU, Erlangen-Nürnberg

    M. Schroth & M. Kurzai

  3. Städtisches Krankenhaus, Dresden-Neustadt

    M. Meisner

  4. Klinik für Anästhesiologie, FAU, Krankenhausstr. 12, 91054, Erlangen

    J. Schmidt

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  1. J. Schmidt
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  2. M. Schroth
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  3. A. Irouschek
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  4. T. Birkholz
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  5. M. Kurzai
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  6. S. Kröber
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  7. M. Meisner
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  8. S. Albrecht
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Correspondence to J. Schmidt.

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Schmidt, J., Schroth, M., Irouschek, A. et al. Der Patient mit Ornithintranscarbamylasemangel. Anaesthesist 54, 1201–1208 (2005). https://doi.org/10.1007/s00101-005-0911-5

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  • DOI: https://doi.org/10.1007/s00101-005-0911-5

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