Hereditary angioedema in Czechoslovakia. Clinical, immunological, genetic and therapeutic studies of 16 families. 1988

Z Starsia, and E Hegyi, and P Kuklinek, and J Cáp, and J Stefanovic, and J Lokaj
Department of Microbiology, Medical Faculty, Comenius University, Bratislava.

The analysis of the findings in 16 families with hereditary angioedema detected in Czechoslovakia over the years 1975-1986 is being presented. In 14 families C1-inhibitor deficiency and in two families afunction of C1-inhibitor was established. Of the total number of 175 examined family members C1-inhibitor defect was registered in 66 subjects (60 with deficiency and 6 with afunction), and of these 48 suffered from clinical symptoms of edematous attacks affecting the skin, larynx, intestine and urinary tract, whereas 18 subjects were asymptomatic. Genealogical studies confirmed that the defect is inherited as an autosomal dominant trait. In 16 patients long-term prophylactic treatment with Danol was introduced. The effective minimum dosage was tested individually for each patient.

UI MeSH Term Description Entries
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D003174 Complement C1 Inactivator Proteins Serum proteins that inhibit, antagonize, or inactivate COMPLEMENT C1 or its subunits. Complement 1 Esterase Inhibitors,Complement C1 Inactivating Proteins,Complement C1 Inhibiting Proteins,Complement C1 Inhibitor Proteins,Complement C1r Protease Inhibitor Proteins,Complement C1s Esterase Inhibitor Proteins,Complement Component 1 Inactivator Proteins
D003181 Complement C4 A glycoprotein that is important in the activation of CLASSICAL COMPLEMENT PATHWAY. C4 is cleaved by the activated COMPLEMENT C1S into COMPLEMENT C4A and COMPLEMENT C4B. C4 Complement,C4 Complement Component,Complement 4,Complement C4, Precursor,Complement Component 4,Pro-C4,Pro-complement 4,C4, Complement,Complement Component, C4,Complement, C4,Component 4, Complement,Component, C4 Complement,Pro C4,Pro complement 4
D003604 Czechoslovakia Created as a republic in 1918 by Czechs and Slovaks from territories formerly part of the Austro-Hungarian Empire. The country split into the Czech Republic and Slovakia 1 January 1993.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000799 Angioedema Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx. Quincke's Edema,Urticaria, Giant,Angioneurotic Edema,Angioedemas,Angioneurotic Edemas,Edema, Angioneurotic,Edema, Quincke's,Edemas, Angioneurotic,Giant Urticaria,Giant Urticarias,Quincke Edema,Quinckes Edema,Urticarias, Giant

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