Hereditary C1 esterase deficiency in a Zulu kindred.
نویسندگان
چکیده
منابع مشابه
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.
Normal human serum contains 18 +/-5 mg/100 ml of C1 esterase inhibitor (alpha-2 neuraminoglycoprotein) as estimated by immunochemical means. Of 118 patients with hereditary angioneurotic edema, the sera of 80, from 42 kindred, contained a mean concentration of 3.15 mg/100 ml or 17.5% of normal. The mean serum concentration in 35 patients in 7 other kindred was 20 mg/100 ml or 111% of normal, an...
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Vol. 34 No. 6 • June 2009 • P&T® 293 INTRODUCTION Hereditary angioedema (HAE) is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1 inhibitor (C1-INH), a molecule that inhibits kallikrein and other serine proteinases. HAE is characterized by un predictable and recurrent attacks of inflammation affecting the hands, feet, face, abdomen, urogenital tract, and l...
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Hereditary angioneurotic edema (HANE) results from the deficiency of the inhibitor of the first component of human complement (C1-INH). It is inherited as an autosomal dominant trait. Heterogeneity of this defect has been shown at the protein and mRNA level. Southern blot analysis of genomic DNA was performed after digestion with six different restriction endonucleases in 24 families affected w...
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Background Hereditary Angioedema (HAE) is an autosomal dominant disorder resulting from a deficiency of C1 esterase inhibitor (C1-INH). It is a rare disease with clinical manifestations debilitating and potentially fatal. The aim of this study was to report the clinical and laboratory characteristics and treatment of patients with Hereditary Angioedema with C1-INH deficit Outpatient Immunology ...
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Hereditary angioedema is characterized by sudden episodes of nonpitting edema that cause discomfort and pain. Typically the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx are affected by attacks of swelling. Laryngeal swelling carries significant risk for asphyxiation. The disease results from mutations in the C1 esterase inhibitor gene that cause C1 esterase inhibitor ...
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ورودعنوان ژورنال:
- South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
دوره 99 1 شماره
صفحات -
تاریخ انتشار 2009