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Das Chédiak-Higashi-Syndrom

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Ergebnisse der Inneren Medizin und Kinderheilkunde/Advances in Internal Medicine and Pediatrics

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Zusammenfassung

Das Chédiak-Higashi-Syndrom (CHS) ist charakterisiert durch die klinischen Merkmale eines partiellen okulokutanen Albinismus und einer gesteigerten Infektionsanfälligkeit, die oft schon in früher Kindheit zum Tod der betroffenen Patienten führt. Die Urasche der verminderten Infektabwehr wird in großen lysosomalen intrazytoplasmatischen Granula gesehen, die in allen Leukozyten und zahlreichen anderen Zellen des Körpers auffallen und zu einem Defekt von Chemotaxis und Bakterizidie führen. Morphologisches Substrat des partiellen Albinismus, der die Haut und die Hautanhangsgebilde sowie die Augen betrifft (okulokutaner Albinismus), sind pathologisch vergrößerte und fehlverteilte Melaningranula. Bei etwa zwei Dritteln der Patienten tritt im finalen Krankheitsverlauf eine sogenannte „akzelerierte Phase“ auf, die durch lymphohistiozytäre Infiltrate in nahezu allen Organen mit Hepatospenomegalie, Lymphadenopathie und Panzytopenie gekennzeichnet ist. Das Chédiak-Higashi-Syndrom wird autosomal-rezessiv vererbt und betrifft daher gehäuft Kinder von blutsverwandten Eltern. In der Veterinärmedizin wird ein vergleichbares Krankheitsbild bei Nerzen, Kälbern, Collies, Mäusen, Walen und Katzen beschrieben.

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  1. Abteilung für Antimikrobielle Therapie und Infektionsimmunologie, Kinderklinik der Universität München im Dr. von Haunerschen Kinderspital, Lindwurmstraße 4, W-8000, München 2, Bundesrepublik Deutschland

    B. H. Belohradsky & B. Laminger

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M. Brandis A. Fanconi P. Frick K. Kochsiek E. O. Riecken

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Belohradsky, B.H., Laminger, B. (1992). Das Chédiak-Higashi-Syndrom. In: Brandis, M., Fanconi, A., Frick, P., Kochsiek, K., Riecken, E.O. (eds) Ergebnisse der Inneren Medizin und Kinderheilkunde/Advances in Internal Medicine and Pediatrics. Ergebnisse der Inneren Medizin und Kinderheilkunde/Advances in Internal Medicine and Pediatrics, vol 60. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-76743-2_4

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