Der autosomal dominante Protein C-Mangel wird durch Mutationen im PROC-Gen hervorgerufen. Im Unterschied zur rezessiven Form liegt hier eine so schwerwiegende Mutation vor, so dass ein einzelnes mutiertes Allel eine Thrombophilie auslösen kann.
Klinisch chemisch werden drei Typen des Protein S-Mangels unterschieden: Typ 1: Es liegt sowohl eine Mangel an nachweisbarem Protein und seiner Aktivität vor. Typ 2: Während die Proteinkonzentration normal ist, zeigt die Aktivität des reifen Proteins eine deutliche Verminderung.[Error: Macro 'ref' doesn't exist]
Bei der Plasmabestimmung sollte man beachten, dass diese Protein Vitamin K-abhängig gebildet wird, also eine längere MArcumar-Pause vor der Abnahme erforderlich ist.
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OMIM.ORG article Omim 176860 |