Molecular genetic diagnosis of hereditary angioedema
نویسندگان
چکیده
منابع مشابه
Diagnosis and management of hereditary angioedema.
Hereditary angioedema (HAE) is characterized by sudden attacks of deep tissue swelling caused by C1 inhibitor deficiency. Swelling severity can vary from mild to severe, and some patients are at risk for disability and death from either asphyxiation or hypovolemic shock. Many HAE attacks are precipitated by trauma or stress. The extremities, genitalia, trunk, bowels, face, and larynx are common...
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...
متن کاملPathophysiology 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 کاملClinical review of hereditary angioedema: diagnosis and management.
Hereditary angioedema (HAE) is caused by a deficiency in C1 esterase inhibitor and is characterized by sudden attacks of edema associated with discomfort and pain. The disease places patients at risk for disability and death if left untreated. Symptom severity and frequency can be extremely variable even among affected members of the same family. Attacks are not associated with inflammation or ...
متن کاملDiagnosis and treatment of hereditary angioedema with normal C1 inhibitor
Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity and protein in plasma were described. Since then numerous patients and families with that condition have been reported. Most of the patients by far were women. In many of the affec...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences of Belarus, Medical series
سال: 2021
ISSN: 2524-2350,1814-6023
DOI: 10.29235/1814-6023-2021-18-1-25-35