Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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 C2-Mangel
Komplement C3-Mangel
Komplement C4-Mangel
Komplement C5-Mangel
Komplement C6-Mangel
Komplement C7-Mangel
Komplement C8-Mangel
Komplement C9-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

Eggert J et al. (1982) Hereditary angioneurotic edema and HLA types in two Danish families.

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2.

Bowen B et al. (2001) A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.

external link
3.

Waytes AT et al. (1996) Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate.

external link
4.

Kramer J et al. (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema.

external link
5.

Weidenbach H et al. (1993) Precipitation of hereditary angioedema by infectious mononucleosis.

external link
6.

Cox M et al. (1995) Hereditary angioneurotic oedema: current management in pregnancy.

external link
7.

Van Dellen RC et al. (1980) Bladder involvement in hereditary angioedema.

external link
8.

Young DW et al. (1980) Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus.

external link
9.

Gadek JE et al. (1980) Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor.

external link
10.

Nzeako UC et al. (2001) Hereditary angioedema: a broad review for clinicians.

external link
11.

Cicardi M et al. () Hereditary angioedema: an appraisal of 104 cases.

external link
12.

Quastel M et al. (1983) Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema.

external link
13.

Small P et al. (1983) Hereditary angioneurotic edema first observed as an epiglottiditis.

external link
14.

Schwarz S et al. (1981) Hormone binding globulin levels in patients with hereditary angiooedema during treatment with Danazol.

external link
15.

Duck SC et al. (1981) Danazol may cause female pseudohermaphroditism.

external link
16.

Gleich GJ et al. (1984) Episodic angioedema associated with eosinophilia.

external link
17.

Harrington TM et al. () Hereditary angioedema and coronary arteritis.

external link
18.

Gralnick HR et al. (1983) Danazol increases factor VIII and factor IX in classic hemophilia and Christmas disease.

external link
19.

Yakushiji Y et al. (2007) Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.

external link
20.

Hancock DB et al. (2011) Determinants of lung function, COPD, and asthma.

external link
21.

None (2011) Therapeutic agents for hereditary angioedema.

external link
22.

Giavina-Bianchi P et al. (2011) Therapeutic agents for hereditary angioedema.

external link
23.

None (2010) Hereditary angioedema--therapies old and new.

external link
24.

Cicardi M et al. (2010) Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema.

external link
25.

Cicardi M et al. (2010) Ecallantide for the treatment of acute attacks in hereditary angioedema.

external link
26.

Zuraw BL et al. (2010) Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema.

external link
27.

None (2008) Clinical practice. Hereditary angioedema.

external link
28.

Theriault A et al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.

external link
29.

None () Hereditary angioneurotic edema. I. Case reports and review of the literature.

external link
30.

ROSEN FS et al. (1965) HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

external link
31.

AUSTEN KF et al. (1965) DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT.

external link
32.

DONALDSON VH et al. (1964) ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE.

external link
33.

DONALDSON VH et al. (1963) A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.

external link
34.

None (1961) Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations.

external link
35.

HEINER DC et al. (1957) Familial paroxysmal dysfunction of the autonomic nervous system (a periodic disease), often precipitated by emotional stress.

external link
36.

None (1961) Chronic familial giant urticaria.

external link
37.

Perricone R et al. (1992) Cystic ovaries in women affected with hereditary angioedema.

external link
38.

Gelfand JA et al. (1976) Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities.

external link
39.

None (1978) The "cure" of an inherited disease.

external link
40.

Blumenthal MN et al. (1978) Lack of linkage between hereditary angioedema and the A and B loci of the HLA system.

external link
41.

Gelfand JA et al. (1979) Acquired C1 esterase inhibitor deficiency and angioedema: a review.

external link
42.

Stewart GJ et al. (1979) Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers.

external link
43.

Robson EB et al. (1979) Linkage studies in hereditary angio-oedema.

external link
44.

Guarino S et al. (2006) Gonadal mosaicism in hereditary angioedema.

external link
45.

Johnson AM et al. (1971) C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema.

external link
46.

Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

external link
47.

Cicardi M et al. (1996) Hereditary angioedema.

external link
48.

None (1973) The genetics of hereditary angioedema: a hypothesis.

external link
49.

Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.

external link
50.

Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema.

external link
51.

Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.

external link
52.

Levy NJ et al. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

external link
53.

Malbran A et al. (1988) Acquired angioedema: observations on the mechanism of action of autoantibodies directed against C1 esterase inhibitor.

external link
54.

None (1983) [Hereditary angioneurotic edema. Apropos of 185 patients and 40 families].

external link
55.

Sheffer AL et al. (1972) Tranexamic acid therapy in hereditary angioneurotic edema.

external link
56.

Frank MM et al. (1972) Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study.

external link
57.

None (1970) Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature.

external link
58.

Pickering RJ et al. (1969) Replacement therapy in hereditary angioedema. Successful treatment of two patients with fresh frozen plasma.

external link
59.

De Marchi M et al. (1973) Hereditary angioedema: report of a large kindred with a rare genetic variant of C1-esterase inhibitor.

external link
60.

Rosen FS et al. (1971) Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.

external link
61.

Zuraw BL et al. (1986) Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor-deficient patients.

external link
62.

Weinstock LB et al. (1987) Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members.

external link
63.

Muhlemann MF et al. (1987) Hereditary angioedema and thyroid autoimmunity.

external link
64.

Jackson J et al. () An IgG autoantibody which inactivates C1-inhibitor.

external link
65.

Alsenz J et al. (1987) Autoantibody-mediated acquired deficiency of C1 inhibitor.

external link
66.

Chappatte O et al. (1988) Hereditary angioneurotic oedema and pregnancy. Case reports and review of the literature.

external link
67.

Laurent J et al. (1988) Ultrasonography in the diagnosis of hereditary angioneurotic oedema.

external link
68.

None (1989) Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes.

external link
69.

Agostoni A et al. (1992) Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients.

external link
70.

OMIM.ORG article

Omim 106100 external link
71.

Orphanet article

Orphanet ID 91378 external link
Update: 14. August 2020
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