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DOI: 10.1055/s-2001-19056
Georg Thieme Verlag Stuttgart · New York
Interdisziplinäre Behandlung des frühmanifesten Ornithintranscarbamylase(OTC)-Mangels[1]
Zwei Patientenberichte und LiteraturübersichtInterdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a reviewPublication History
Publication Date:
17 December 2001 (online)
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Zusammenfassung
Patientenberichte Wir berichten über zwei Knaben, ein Frühgeborenes (Gestationsalter 31 SSW, Geburtsgewicht 1420 g) und ein Reifgeborenes (Gestationsalter 38 SSW, Geburtsgewicht 3680 g) mit Ornithintranscarbamylase(OTC)-Mangel. Beide erlitten nach initial guter Anpassung im Rahmen der postnatalen Katabolie am 2. bzw. 4. Lebenstag (LT) metabolische Krisen bis zur Beatmungspflichtigkeit. Nach Diagnose der Hyperammonämie (NH3 > 1000 μmol/l) erfolgten der Nachweis des für den OTC-Mangel typischen Aminosäure-Musters im Serum sowie einer exzessiv erhöhten Orotsäure-Ausscheidung im Urin. Neben Infusionstherapie (Insulin-Glukose- und Fettinfusion, Na-Benzoat, Arginin-HCl, L-Carnitin) wurde zur Senkung des NH3-Spiegels bei dem Frühgeborenen zunächst eine Austauschtransfusion durchgeführt, nach klinischer Stabilisierung Versorgung mit zentralvenösen Kathetern, Hämofiltration und -dialyse. Das Kind verstarb nach schweren Kreislauf- und Gerinnungsstörungen am 14. LT. Der reifgeborene Knabe tolerierte die effektive Hämofiltration und wurde am 26. LT unter spezifischer Therapie nach Hause entlassen.Schlussfolgerung Entscheidend für die Prognose des OTC-Mangels sind der Zeitpunkt der Diagnosestellung sowie der Einfluss zusätzlicher Risikofaktoren. Die unmittelbaren Behandlungsziele (Stabilisierung der Vitalfunktionen, Senkung des NH3-Spiegels, Steuerung der Ernährung) sind nur in Zusammenarbeit zwischen Neonatologie, Stoffwechselbereich, pädiatrischer Nephrologie und Kinderchirurgie zu realisieren.
Patient reports We report on a male preterm infant (gestational age 31 weeks, birth weight 1420 g) and a male term infant (gestational age 38 weeks, birth weight 3680 g) with ornithine transcarbamylase (OTC) deficiency. After inconspicuous cardiopulmonary adjustment, both entered a state of metabolic crisis with respiratory insufficiency and ventilatory requirement at the 2nd and 4th day of life, respectively. Diagnosis of hyperammonemia (NH3 > 1000 μmol/l) was followed by the detection of a plasma amino acid pattern that is typical for OTC-deficiency and an excessive orotic aciduria. Beside intravenous treatment (insulin-glucose-infusion, lipid infusion, sodium benzoate, arginine, L-carnitine), the preterm infant received an exchange transfusion and was supplied with central venous catheters, hemofiltration and hemodialysis. He died after severe disturbances of circulation and coagulation at the 14th day. The male term infant tolerated the effective hemofiltration and was dicharged home with specific therapy at day 26.Conclusions Time of diagnosis and influence of additional risk factors are decisively for the prognosis of OTC-deficiency. The immediate aims of therapy (stabilization of vital functions, reduction of plasma ammonium, control of nutrition) can only be realized in cooperation between neonatology, division of metabolism, pediatric nephrology and pediatric surgery.
Schlüsselwörter
Hyperammonämie - Ornithin-Transcarbamylase-Mangel - OTC-Mangel
Key words
Hyperammonemia - ornithine-transcarbamylase-deficiency - OTC-deficiency
Literatur
1 Eingang: 14. 8. 2000
Angenommen nach Revision: 15. 1.
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Dr. med. Axel Hübler
Abteilung Neonatologie und Pädiatrische
Intensivmedizin
Klinik für Kinder- und
Jugendmedizin
Friedrich-Schiller-Universität Jena
Kochstraße 2
07740 Jena
Phone: 0 36 41 -
93 82 59
Fax: 0 36 41 -
93 80 75