Familial case of hereditary angioneurotic angioedema, caused by deficiency in the C1 inhibitor complement system
- Authors: Kovzel E.F.1, Nurpeisov T.T.2, Gani B.1, Volodchenko S.A.1, Zhamanbaeva Z.Z.1, Syzdykova A.B.1, Batyrbaeva A.Z.2
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Affiliations:
- Corporate Fund «University Medical Center», Program of Clinical Allergology Immunology
- Scientific research Institute of Cardiology and Internal diseases
- Issue: Vol 20, No 1 (2023)
- Pages: 104-111
- Section: Case reports
- URL: https://journals.rcsi.science/raj/article/view/133026
- DOI: https://doi.org/10.36691/RJA1556
- ID: 133026
Cite item
Abstract
This study revealed primary immunodeficiency developing as a result of a genetically mediated quantitative deficiency or a decrease in the activity of the C1 component complement inhibitor in a family clinical case of patients with genetically confirmed hereditary angioedema, who were living in Taldykorgan, Almaty, Republic of Kazakhstan.
Anamnesis data and clinical and laboratory-instrumental indicators were evaluated. In addition to assessing the objective status and general clinical laboratory studies, all patients underwent studies to determine the quantitative content of C4 and C1 inhibitor of the complement component and the presence of a mutation in the SERPING1 gene.
The polymorphism of clinical and anamnestic data did not allow timely identification of specific syndromes and determination of a clinical diagnosis. As a result, specific basic treatment, preventive measures, and preventive intervention associated with traumatic life and medical situations were given late, leading to life-threatening conditions.
The main clinical manifestations of hereditary angioedema are recurrent dense edema, lasting 2–5 days. The skin, upper respiratory tract, and gastrointestinal tract are the organs most involved. Clinical manifestations in patients vary dramatically, from the absence of characteristic symptoms to life-threatening edema, leading to death.
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##article.viewOnOriginalSite##About the authors
Elena F. Kovzel
Corporate Fund «University Medical Center», Program of Clinical Allergology Immunology
Author for correspondence.
Email: Elena.Kovzel@umc.org.kz
ORCID iD: 0000-0002-2383-0264
SPIN-code: 9274-1640
MD, Dr. Sci. (Med.), Professor
Kazakhstan, AstanaTair T. Nurpeisov
Scientific research Institute of Cardiology and Internal diseases
Email: dr.tt@mail.ru
ORCID iD: 0000-0002-9590-8905
SPIN-code: 2611-7279
MD, Dr. Sci. (Med.), Professor
Kazakhstan, AlmatyBayan Gani
Corporate Fund «University Medical Center», Program of Clinical Allergology Immunology
Email: gani.bayan96@gmail.com
ORCID iD: 0000-0002-0897-6353
Kazakhstan, Astana
Svetlana A. Volodchenko
Corporate Fund «University Medical Center», Program of Clinical Allergology Immunology
Email: svetlanasv888@mail.ru
ORCID iD: 0000-0002-7577-5172
SPIN-code: 2653-3388
Kazakhstan, Astana
Zhanagul Zh. Zhamanbaeva
Corporate Fund «University Medical Center», Program of Clinical Allergology Immunology
Email: alem2005@mail.ru
SPIN-code: 9530-3672
Kazakhstan, Astana
Asiya B. Syzdykova
Corporate Fund «University Medical Center», Program of Clinical Allergology Immunology
Email: asiya-15@mail.ru
ORCID iD: 0000-0002-4682-7412
Kazakhstan, Astana
Aray Zh. Batyrbaeva
Scientific research Institute of Cardiology and Internal diseases
Email: aikoshny@mail.ru
ORCID iD: 0000-0001-9987-4741
SPIN-code: 6455-2943
Kazakhstan, Almaty
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