A GROUP OF PATIENTS WITH AUTOINFLAMMATORY SYNDROME IN THE REGISTER OF CHILDREN WITH PRIMARY IMMUNODEFICIENCY IN THE KALININGRAD REGION
DOI: 10.22138/2500-0918-2024-21-4-436-445
A.Z. Marhaichuk¹, I.A. Tuzankina², T.V. Krivenko¹, A.Y. Gorbunova³
¹Children’s Regional Hospital of the Kaliningrad region, Kaliningrad, Russian Federation;
²Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russian Federation;
³Saint-Petersburg Pasteur Institute, Saint-Petersburg, Russian Federation
Abstract. The aim of the study was to assess the prevalence and structure of auto-inflammatory diseases in children in the Kaliningrad region. Materials and methods. The group of examined children was made up of a cohort of children whose parents contacted the Children’s Regional Hospital of the Kaliningrad Region with complaints of fever, myalgia, serositis, aphthous stomatitis, visiting an allergist-immunologist and rheumatologist. Somatic and laboratory examinations were provided. The genetic study of biological material was carried out in the laboratory of medical diagnostics of the city of St. Petersburg, within the framework of the Eurofever diagnostic program. Depending on the clinical picture, the MEFV gene (Familial Mediterranean fever) or a panel of genes associated with the development of periodic fever were studied. The results of the study. The Kaliningrad Region is a region in which a larger number of residents come from other regions of the country, therefore, the prevalence of certain nosological forms may differ from other regional statistical values. Thus, familial Mediterranean fever occurs in the child population of 1,08:20000, and there are 11 cases verified to date. Most of the patients (63,7%) are ethnic Slavs, while Armenians among these patients are 36,4% (n=4). Children carrying genetic variants associated with changes in the coding of cryopyrin (CAPS) or tumor necrosis factor receptor (TRAPS) have been identified, who have not yet demonstrated a pronounced clinical picture and do not need genetic engineering basic therapy, however, are under the supervision of the Federal Center. In our practice, patients with combined forms of innate errors of immunity have been registered, for example, a child with CCL and microdeletion of chromosome 22, a patient with Marshall syndrome (considered as a primary immunodeficiency, phenotype of autoinflammatory diseases (AID). Currently, three children are under observation, one of whom has a pathological variant of the tumor necrosis factor receptor gene. Conclusion. The paper presents the clinical experience of observing children. The data can be used in the early diagnosis of autoinflammatory diseases and the prevention of irreversible changes.
Keywords: autoinflammatory diseases and syndrome, periodic disease, periodic syndrome, Familial Mediterranean Fever, PFAPA, TRAPS, CAPS, Marshall syndrome, FMF
There is no conflict of interest.
Contact details of the corresponding author:
Marhaichuk Aishat Ziyabutdinovna
ayshat.90@mail.ru
Received: 01.09.2024
For citation: Marhaichuk A.Z., Tuzankina I.A., Krivenko T.V., Gorbunova A.Y. A group of patients with autoinflammatory syndrome in the register of children with primary immunodeficiency in the Kaliningrad region. [Online] Vestn. Ural. Med. Akad. Nauki. = Journal of Ural Medical Academic Science. 2024, Vol. 21, no. 4, pp. 436–445. DOI: 10.22138/2500-0918-2024-21-4-436-445 (In Russ)
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Auhtors
Aishat Z. Marhaichuk
Children’s Regional Hospital of the Kaliningrad region
Allergist-immunologist of the Consultative and Diagnostic Center for Children
Kaliningrad, Russian Federation
ayshat.90@mail.ru
Irina A. Tuzankina
Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences (IIP UB RAS)
MD, Professor, Honored Scientist of the Russian Federation, Chief Researcher of the Laboratory of Immunology of Inflammation
Yekaterinburg, Russian Federation
ituzan@yandex.ru
Tatyana V. Krivenko
Children’s Regional Hospital of the Kaliningrad region
Allergist-immunologist of the Consultative and Diagnostic Center for Children
Kaliningrad, Russian Federation
stmsdob39@gmail.com
Alesya Yu. Gorbunova
Saint-Petersburg Pasteur Institute
Postgraduate student
Saint-Petersburg, Russian Federation
alesja.gorbynova@gmail.ru