Die paroxysmale nächtliche Hämoglobinurie ist eine Bluterkrankung, die auf einem defekten Glycosylphosphatidylinositol (GPI) Anker beruht. Ursache sind somatische Mutationen des PIGA-Gens. Die nächtliche Hämoglobinurie ist zwar ein erstes auffälliges Symptom aber das breite Spektrum hematologischer Erkrankungen reicht bis zum Myelodysplastischen Syndrom.
Das Eculizumab ist ein neues recht effektives Medikament zur Behandlung.
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Orphanet article Orphanet ID 447 |
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OMIM.ORG article Omim 300818 |