Pathophysiology of Hereditary Angioedema
نویسندگان
چکیده
منابع مشابه
Pathophysiology of Hereditary Angioedema.
The genetic deficiency of the C1 inhibitor is responsible for hereditary angioedema (HAE), which is a disease transmitted as an autosomal dominant trait. More than 200 point mutations in the C1 inhibitor gene have been found to be associated with HAE. Patients with this disease suffer from recurrent angioedema, which is mediated by bradykinin derived from activation of the contact system. This ...
متن کاملThe Pathophysiology of Hereditary Angioedema
Hereditary angioedema (HAE) causes recurrent episodes of angioedema that may be very severe and are frequently associated with significant morbidity and even mortality. Understanding the pathophysiology of this disease is crucial for proper diagnosis and management of these patients. HAE is caused by mutations in the SERPING1 gene that result in decreased plasma levels of functional C1 inhibito...
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Hereditary angioedema is a serious medical condition caused by a deficiency of C1-inhibitor. The condition is the result of a defect in the gene controlling the synthesis of C1-inhibitor, which regulates the activity of a number of plasma cascade systems. Although the prevalence of hereditary angioedema is low - between 1:10,000 to 1:50,000 - the condition can result in considerable pain, debil...
متن کاملSYMPOSIUM REPORT SUPPLEMENT The Pathophysiology of Hereditary Angioedema
Hereditary angioedema (HAE) causes recurrent episodes of angioedema that may be very severe and are frequently associated with significant morbidity and even mortality. Understanding the pathophysiology of this disease is crucial for proper diagnosis and management of these patients. HAE is caused by mutations in the SERPING1 gene that result in decreased plasma levels of functional C1 inhibito...
متن کاملHereditary Angioedema
Copyright © 2008 Massachusetts Medical Society. A 19-year-old woman presents to the emergency department with light-headedness, severe abdominal pain, and intractable nausea and vomiting that began 12 hours earlier. The patient reports previous episodes of abdominal pain and swelling of her hands and feet that have been attributed possibly to food allergies, which have recently become more freq...
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ژورنال
عنوان ژورنال: Pediatric Allergy, Immunology, and Pulmonology
سال: 2014
ISSN: 2151-321X,2151-3228
DOI: 10.1089/ped.2014.0425