АУТОВОСПАЛИТЕЛЬНЫЕ СИНДРОМЫ В ПРАКТИКЕ ВРАЧА НА ПРИМЕРЕ СЕМЕЙНОГО СЛУЧАЯ СИНДРОМА МАКЛА – УЭЛЛСА

Abstract

Introduction. In parallel with the development of modern molecular genetic diagnostics, the frequency of diagnosing rare (orphan) syndromes in patients is increasing. Previously described clinical cases with a combination of certain syndromes, at the present stage are transformed into a genetically confirmed clinical diagnosis with the possibility of using targeted pathogenetically determined therapy. Muckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to the group of Сryopyrin-Associated Periodic Syndrome (CAPS) which has an unfavorable outcome if left untreated. Aim. To demonstrate a family clinical case of a rare autoinflammatory disease. Materials and methods. History of the disease for 4 generations of the same family, clinical and laboratory manifestations in a 7-year-old patient, genetic testing to identify Muckle-Wells syndrome. Results. A clinical, genetic examination of two children and a mother from the same family was carried out, an autoinflammatory disease belonging to the group of cryopyrin-associated periodic syndromes was documented, biological therapy was prescribed. Conclusion. Increasing awareness of orphan diseases at the present stage contributes to earlier diagnosis, molecular genetic testing, taking into account family history and early administration of pathogenetic therapy with the ability to prevent the development of life-threatening complications.