Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäres Angioödem

Hereditäres Angioödem ist eine autosomal dominante Erkrankung die durch Mutationen in den Genen SERPING1 (vormals C1NH) und F12 hervorgerufen wird. Das klinische Bild besteht in intermittierenden lokal begrenzten Ödemen der Subkutis und der Submukosa. Letztere vor allem im oberen Altmungs- und Verdauungstrakt.

Einteilung

Drei Typen des hereditären Angioödems können unterschieden werden. Beim Typ 1, der bei etwa 85% der Patienten anzutreffen ist, findet sich ein deutlich erniedrigter Spiegel des Proteins. Beim Typ 2 dagegen ist die Proteinmenge normal aber funktionsgestört. Während beim Typ 1 vor allem trunkiernde Mutationen im SERPING1-Gen gefunden werden, sind beim Typ 2 eher Missense-Mutationen häufig. Der Typ 3 wird durch Mutationen im F2-Gen ausgelöst.

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Hereditäres Angioödem 1
SERPING1
Hereditäres Angioödem 2
SERPING1
Hereditäres Angioödem 3
F12
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

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