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DOI: 10.1055/s-0038-1629218
Sichelzellkrankheit bei Kindern
Erste Daten aus WienSickle cell disease in childrenFirst report from ViennaPublication History
Eingereicht am: 16 May 2014
angenommen am: 20 May 2014
Publication Date:
27 January 2018 (online)
Zusammenfassung
Die Sichelzellkrankheit zählt zu den häufigsten Erbkrankheiten der Weltbevölkerung und tritt immigrationsbedingt seit Mitte des vergangenen Jahrhunderts vermehrt in Mittel-europa auf. Die Sichelzellkrankheit ist eine Multiorgankrankheit, die durch eine chronische Hämolyse, akute vaso-okklusive Ereignisse (u. a. Schmerzkrisen, akutes Thoraxsyndrom, Blutsequestration in der Milz und Leber, ischämischer Schlaganfall) und chronische Organschäden (u. a. Kardiomyopathie, Nephropathie, funktionelle Asplenie) gekennzeichnet und auch bei adäquater medizinischer Versorgung mit einer beträchtlichen Morbidität und Mortalität verbunden ist. Die Standardbetreuung besteht aus einer konsequenten Infektionsprophylaxe (Impfungen und täglicher Gabe von oralem Penicillin), Behandlung der akuten Ereignisse sowie Bluttransfusionen und Dauertherapie mit Hydroxyurea bei entsprechender Indikation. Die hämatopoetische Stammzelltransplantation stellt das einzige kurative Therapieverfahren für PatientInnen mit Sichelzellkrankheit dar.
Summary
Sickle cell disease is one of the most common genetic disorders worldwide and it came from endemic regions to central Europe along with migration processes during the last century. The disease is characterized by chronic hemolysis, acute vaso-occlusive episodes (e. g. pain crises, acute chest syndrome, ischemic stroke, sequestration of blood in the spleen and liver) and chronic organ damage (e. g. cardiomyopathy, nephropathy, functional asplenia). Even with adequate medical care sickle cell disease is still associated with significant morbidity and mortality. The standard of care includes infection prophylaxis (immunizations and oral penicillin), management of the acute events, as well as transfusions and continuous hydroxyurea when indicated. Hematopoietic stem cell transplantation is the only curative treatment option available to date.
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