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
Hereditäres Angioödem
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Hereditäres Angioödem 1
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Hereditäres Angioödem 2
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SERPING1
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Hereditäres Angioödem 3
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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. |
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| 6. |
None (1973) The genetics of hereditary angioedema: a hypothesis. [^] |
| 7. |
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None (1961) Chronic familial giant urticaria. [^] |
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| 12. |
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Gelfand JA et. al. (1979) Acquired C1 esterase inhibitor deficiency and angioedema: a review. [^] |
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| 15. |
None (1978) The "cure" of an inherited disease. [^] |
| 16. |
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| 20. |
None (1989) Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes. [^] |
| 21. |
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| 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. [^] |
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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. |
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| 33. |
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| 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. |
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| 46. |
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| 47. |
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| 48. |
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| 49. |
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| 50. |
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| 51. |
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| 52. |
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| 53. |
HEINER DC et. al. (1957) Familial paroxysmal dysfunction of the autonomic nervous system (a periodic disease), often precipitated by emotional stress. [^] |
| 54. |
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| 55. |
DONALDSON VH et. al. (1963) A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE. [^] |
| 56. |
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| 57. |
AUSTEN KF et. al. (1965) DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT. [^] |
| 58. |
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| 59. |
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| 60. |
Yakushiji Y et. al. (2007) Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. [^] |
| 61. |
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| 62. |
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| 63. |
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| 64. |
Cicardi M et. al. (2010) Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. [^] |
| 65. |
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| 66. |
Giavina-Bianchi P et. al. (2011) Therapeutic agents for hereditary angioedema. [^] |
| 67. |
None (2011) Therapeutic agents for hereditary angioedema. [^] |
