Edema, hereditary angioneurotic

Hereditary angioneurotic edema with Ci esterase inhibitor... 

Synthesis of Cl inhibitor in fibroblasts from patients with type I and type II hereditary angioneurotic edema. J Clin Invest 1991 87 1614-1620. 

Pearson K, Buchignani J. Shimkin P. Frank M Hereditary angioneurotic edema of the gastrointestinal tract. Am J Roetgenol Radium Ther Nucl Med 1972 116 256-261. 

Quastel M, Harrison R, Cicardi M, Alper C, Rosen F Behavior in vivo of normal and dysfunctional Cl inhibitor in normal subjects and patients with hereditary angioneurotic edema. J Chn Invest 1983 71 1041-1046. 

Kramer J, Rosen F, Colten H, Rajczy K, Strunk R Transinhibifion of Cl inhibitor synthesis in type I hereditary angioneurotic edema. J Chn Immunol 1993 91 1258-1262. 

Austen KF, Sheffer AL Detection of hereditary angioneurotic edema by demonstration of a reduction in the second component of human complement. N Engl J Med 1965 272 649-656. 

Juhhn L, Michaelsson G Vascular reactions in hereditary angioneurotic edema. Acta Derm Venereol 1969 40 20-25. 

Geha R, Quinti I, Austen K, Cicardi M, Sheffer A, Rosen F Acquired Cl-inhibitor deficiency associated with anti-idiotypic antibody to monoclonal immunoglobuhns. N Engl J Med 1985 312 534-540. Donaldson V, Hess E, McAdams A Lupus-erythe-matosus-like disease in three umelated women with hereditary angioneurotic edema. Arm Intern Med 1977 86 312-313. 

Cl inhibitor inhibitor of activated complement component 1, missing in hereditary angioneurotic edema... 

Frank MM, Sergent JS, Kane MA, Ailing DW. Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study. N Engl J Med 1972286(15) 808-12. 

Sheffer AL, Austen KF, Rosen FS. Tranexamic acid therapy in hereditary angioneurotic edema. N Engl J Med 1972 287(9) 452-4. 

The functions of C2 are (1) to furnish the active enzyme site for C3 convertase and C5 convertase and (2) possibly to participate in the generation of a vasoactive mediator, the so-called C-kinin, which participates in the edema formation of hereditary angioneurotic edema (HANE) (Klemperer et al., 1969). 

K.L.Burdon, J.T.Queng, O.C.Thomas and J.P.McGovern, Observations on Biochemical Abnormalities in Hereditary Angioneurotic Edema, J. Allergy 36, 546-557 (1965). 

Hereditary angioneurotic edema results from a genetically determined deficiency of the Cl inhibitor. The defect is transmitted as an autosomal dominant. The serum of affected patients contains anywhere from 5 to 30% of the normal concentration of Cl inhibitor (18 mg/lOOml). 

The autosomal dominant inheritance of hereditary angioneurotic edema presents an interesting puzzle. Obviously affected individuals are heterozygous for the abnormality. Despite this, their serum contains very little Cl inhibitor (average 17% of normal), and liver biopsies can be shown to contain a markedly reduced number of hepatic parenchymal cells engaged in Cl inhibitor synthesis . 

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