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.
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.
1. |
Eggert J et al. (1982) Hereditary angioneurotic edema and HLA types in two Danish families. |
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. |
3. |
Waytes AT et al. (1996) Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate. |
4. |
Kramer J et al. (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. |
5. |
Weidenbach H et al. (1993) Precipitation of hereditary angioedema by infectious mononucleosis. |
6. |
Cox M et al. (1995) Hereditary angioneurotic oedema: current management in pregnancy. |
7. |
Van Dellen RC et al. (1980) Bladder involvement in hereditary angioedema. |
8. |
Young DW et al. (1980) Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus. |
9. |
Gadek JE et al. (1980) Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor. |
10. |
Nzeako UC et al. (2001) Hereditary angioedema: a broad review for clinicians. |
11. |
Cicardi M et al. () Hereditary angioedema: an appraisal of 104 cases. |
12. |
Quastel M et al. (1983) Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. |
13. |
Small P et al. (1983) Hereditary angioneurotic edema first observed as an epiglottiditis. |
14. |
Schwarz S et al. (1981) Hormone binding globulin levels in patients with hereditary angiooedema during treatment with Danazol. |
15. |
Duck SC et al. (1981) Danazol may cause female pseudohermaphroditism. |
16. |
Gleich GJ et al. (1984) Episodic angioedema associated with eosinophilia. |
17. |
Harrington TM et al. () Hereditary angioedema and coronary arteritis. |
18. |
Gralnick HR et al. (1983) Danazol increases factor VIII and factor IX in classic hemophilia and Christmas disease. |
19. |
Yakushiji Y et al. (2007) Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. |
20. |
Hancock DB et al. (2011) Determinants of lung function, COPD, and asthma. |
21. |
None (2011) Therapeutic agents for hereditary angioedema. |
22. |
Giavina-Bianchi P et al. (2011) Therapeutic agents for hereditary angioedema. |
23. |
None (2010) Hereditary angioedema--therapies old and new. |
24. |
Cicardi M et al. (2010) Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. |
25. |
Cicardi M et al. (2010) Ecallantide for the treatment of acute attacks in hereditary angioedema. |
26. |
Zuraw BL et al. (2010) Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. |
27. |
None (2008) Clinical practice. Hereditary angioedema. |
28. |
Theriault A et al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1. |
29. |
None () Hereditary angioneurotic edema. I. Case reports and review of the literature. |
30. |
ROSEN FS et al. (1965) HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS. |
31. |
AUSTEN KF et al. (1965) DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT. |
32. |
DONALDSON VH et al. (1964) ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE. |
33. |
DONALDSON VH et al. (1963) A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE. |
34. |
None (1961) Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations. |
35. |
HEINER DC et al. (1957) Familial paroxysmal dysfunction of the autonomic nervous system (a periodic disease), often precipitated by emotional stress. |
36. |
None (1961) Chronic familial giant urticaria. |
37. |
Perricone R et al. (1992) Cystic ovaries in women affected with hereditary angioedema. |
38. |
Gelfand JA et al. (1976) Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities. |
39. |
None (1978) The "cure" of an inherited disease. |
40. |
Blumenthal MN et al. (1978) Lack of linkage between hereditary angioedema and the A and B loci of the HLA system. |
41. |
Gelfand JA et al. (1979) Acquired C1 esterase inhibitor deficiency and angioedema: a review. |
42. |
Stewart GJ et al. (1979) Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers. |
43. |
Robson EB et al. (1979) Linkage studies in hereditary angio-oedema. |
44. |
Guarino S et al. (2006) Gonadal mosaicism in hereditary angioedema. |
45. |
Johnson AM et al. (1971) C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema. |
46. |
Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. |
47. |
Cicardi M et al. (1996) Hereditary angioedema. |
48. |
None (1973) The genetics of hereditary angioedema: a hypothesis. |
49. |
Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. |
50. |
Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema. |
51. |
Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. |
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. |
53. |
Malbran A et al. (1988) Acquired angioedema: observations on the mechanism of action of autoantibodies directed against C1 esterase inhibitor. |
54. |
None (1983) [Hereditary angioneurotic edema. Apropos of 185 patients and 40 families]. |
55. |
Sheffer AL et al. (1972) Tranexamic acid therapy in hereditary angioneurotic edema. |
56. |
Frank MM et al. (1972) Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study. |
57. |
None (1970) Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature. |
58. |
Pickering RJ et al. (1969) Replacement therapy in hereditary angioedema. Successful treatment of two patients with fresh frozen plasma. |
59. |
De Marchi M et al. (1973) Hereditary angioedema: report of a large kindred with a rare genetic variant of C1-esterase inhibitor. |
60. |
Rosen FS et al. (1971) Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. |
61. |
Zuraw BL et al. (1986) Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor-deficient patients. |
62. |
Weinstock LB et al. (1987) Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members. |
63. |
Muhlemann MF et al. (1987) Hereditary angioedema and thyroid autoimmunity. |
64. |
Jackson J et al. () An IgG autoantibody which inactivates C1-inhibitor. |
65. |
Alsenz J et al. (1987) Autoantibody-mediated acquired deficiency of C1 inhibitor. |
66. |
Chappatte O et al. (1988) Hereditary angioneurotic oedema and pregnancy. Case reports and review of the literature. |
67. |
Laurent J et al. (1988) Ultrasonography in the diagnosis of hereditary angioneurotic oedema. |
68. |
None (1989) Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes. |
69. |
Agostoni A et al. (1992) Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. |
70. |
OMIM.ORG article Omim 106100 |
71. |
Orphanet article Orphanet ID 91378 |