Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Abstract

Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out. Results: mevalonate kinase deficiency syndrome (SDMC) is a rare autoinflammatory disease with an autosomal recessive inheritance mechanism. The severity of the disease correlates with the residual activity of the enzyme mevalonate kinase, which is involved in the biosynthesis of cholesterol and isoprenoids, which is necessary for the conversion of mevalonate into the final product. As a result, the body accumulates mevalonic acid, especially high levels of it are found in the urine. A relatively mild SDMC phenotype is distinguished: hyperimmunoglobulinemia syndrome D (first described as HIDS in 1984) and a severe variant – mevalonic aciduria. A little more than 300 patients with SDMC have been described in the world. The disease is manifested by intermittent fever, arthralgia, pharyngitis, cervical lymphadenitis, urticarial rash resembling urticaria, less often vasculitis-like manifestations in the form of petechial-purple elements. Diagnosis is based on the activity of the mevalonate kinase enzyme in the blood or skin cells, biochemical analysis of urine (high numbers of mevalonic acid), as well as genetic confirmation of a mutation in the mevalonate kinase gene. The main principles of therapy for autoinflammatory diseases are the control of clinical symptoms and inflammation in general, as well as the prevention of amyloidosis. Conclusion: if an autoinflammatory process in the body is suspected, it is necessary to conduct a genetic study for timely diagnosis and the appointment of pathogenetic therapy to improve the quality of life and prevent complications.