Hereditäres Angioödem 2
Das hereditäres Angioödem Typ 2 ist eine autosomal dominante Erkrankung die durch Missense-Mutationen im SERPING1-Gen (vormals C1NH) hervorgerufen wird. Das klinische Bild besteht in intermittierenden lokal begrenzten Ödemen der Subkutis und der Submukosa. Letztere vor allem im oberen Altmungs- und Verdauungstrakt.
Gliederung
![]() |
||||
![]() |
![]() |
|||
![]() |
![]() |
|||
![]() |
![]() |
![]() ![]() |
||
![]() |
![]() |
|||
![]() |
![]() |
![]() |
![]() |
![]() |
Referenzen:
1. |
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. [^] |
2. |
Theriault A et al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1. [^] |
3. |
Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. [^] |
4. |
Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema. [^] |
5. |
Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. [^] |
6. |
None (1973) The genetics of hereditary angioedema: a hypothesis. [^] |
7. |
Cicardi M et al. (1996) Hereditary angioedema. [^] |
8. |
Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. [^] |
9. |
None (1961) Chronic familial giant urticaria. [^] |
10. |
Guarino S et al. (2006) Gonadal mosaicism in hereditary angioedema. [^] |
11. |
Robson EB et al. (1979) Linkage studies in hereditary angio-oedema. [^] |
12. |
Stewart GJ et al. (1979) Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers. [^] |
13. |
Gelfand JA et al. (1979) Acquired C1 esterase inhibitor deficiency and angioedema: a review. [^] |
14. |
Blumenthal MN et al. (1978) Lack of linkage between hereditary angioedema and the A and B loci of the HLA system. [^] |
15. |
None (1978) The "cure" of an inherited disease. [^] |
16. |
Gelfand JA et al. (1976) Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities. [^] |
17. |
Perricone R et al. (1992) Cystic ovaries in women affected with hereditary angioedema. [^] |
18. |
Agostoni A et al. (1992) Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. [^] |
19. |
Malbran A et al. (1988) Acquired angioedema: observations on the mechanism of action of autoantibodies directed against C1 esterase inhibitor. [^] |
20. |
None (1989) Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes. [^] |
21. |
Laurent J et al. (1988) Ultrasonography in the diagnosis of hereditary angioneurotic oedema. [^] |
22. |
Chappatte O et al. (1988) Hereditary angioneurotic oedema and pregnancy. Case reports and review of the literature. [^] |
23. |
Alsenz J et al. (1987) Autoantibody-mediated acquired deficiency of C1 inhibitor. [^] |
24. |
Jackson J et al. () An IgG autoantibody which inactivates C1-inhibitor. [^] |
25. |
Muhlemann MF et al. (1987) Hereditary angioedema and thyroid autoimmunity. [^] |
26. |
Weinstock LB et al. (1987) Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members. [^] |
27. |
Zuraw BL et al. (1986) Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor-deficient patients. [^] |
28. |
Rosen FS et al. (1971) Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. [^] |
29. |
Pickering RJ et al. (1969) Replacement therapy in hereditary angioedema. Successful treatment of two patients with fresh frozen plasma. [^] |
30. |
None (1970) Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature. [^] |
31. |
Frank MM et al. (1972) Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study. [^] |
32. |
Sheffer AL et al. (1972) Tranexamic acid therapy in hereditary angioneurotic edema. [^] |
33. |
Johnson AM et al. (1971) C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema. [^] |
34. |
None (1983) [Hereditary angioneurotic edema. Apropos of 185 patients and 40 families]. [^] |
35. |
Gralnick HR et al. (1983) Danazol increases factor VIII and factor IX in classic hemophilia and Christmas disease. [^] |
36. |
Harrington TM et al. () Hereditary angioedema and coronary arteritis. [^] |
37. |
Gleich GJ et al. (1984) Episodic angioedema associated with eosinophilia. [^] |
38. |
Duck SC et al. (1981) Danazol may cause female pseudohermaphroditism. [^] |
39. |
Schwarz S et al. (1981) Hormone binding globulin levels in patients with hereditary angiooedema during treatment with Danazol. [^] |
40. |
Small P et al. (1983) Hereditary angioneurotic edema first observed as an epiglottiditis. [^] |
41. |
Quastel M et al. (1983) Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. [^] |
42. |
Cicardi M et al. () Hereditary angioedema: an appraisal of 104 cases. [^] |
43. |
Eggert J et al. (1982) Hereditary angioneurotic edema and HLA types in two Danish families. [^] |
44. |
Gadek JE et al. (1980) Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor. [^] |
45. |
Young DW et al. (1980) Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus. [^] |
46. |
Van Dellen RC et al. (1980) Bladder involvement in hereditary angioedema. [^] |
47. |
Cox M et al. (1995) Hereditary angioneurotic oedema: current management in pregnancy. [^] |
48. |
Weidenbach H et al. (1993) Precipitation of hereditary angioedema by infectious mononucleosis. [^] |
49. |
Kramer J et al. (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. [^] |
50. |
Waytes AT et al. (1996) Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate. [^] |
51. |
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. [^] |
52. |
Nzeako UC et al. (2001) Hereditary angioedema: a broad review for clinicians. [^] |
53. |
HEINER DC et al. (1957) Familial paroxysmal dysfunction of the autonomic nervous system (a periodic disease), often precipitated by emotional stress. [^] |
54. |
None (1961) Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations. [^] |
55. |
DONALDSON VH et al. (1963) A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE. [^] |
56. |
DONALDSON VH et al. (1964) ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE. [^] |
57. |
AUSTEN KF et al. (1965) DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT. [^] |
58. |
ROSEN FS et al. (1965) HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS. [^] |
59. |
None () Hereditary angioneurotic edema. I. Case reports and review of the literature. [^] |
60. |
Yakushiji Y et al. (2007) Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. [^] |
61. |
None (2008) Clinical practice. Hereditary angioedema. [^] |
62. |
Zuraw BL et al. (2010) Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. [^] |
63. |
Cicardi M et al. (2010) Ecallantide for the treatment of acute attacks in hereditary angioedema. [^] |
64. |
Cicardi M et al. (2010) Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. [^] |
65. |
None (2010) Hereditary angioedema--therapies old and new. [^] |
66. |
Giavina-Bianchi P et al. (2011) Therapeutic agents for hereditary angioedema. [^] |
67. |
None (2011) Therapeutic agents for hereditary angioedema. [^] |
68. |
OMIM.ORG article Omim 106100 [^] |