Соответствие клиническим рекомендациям объема диагностических исследований на этапе установления диагноза у пациентов с юношеским артритом с системным началом, включенных в Федеральный регистр Министерства здравоохранения Российской Федерации

Abstract

Juvenile arthritis (Syn.: Systemic adolescent idiopathic arthritis; hereinafter referred to as the JA, sJA) is the most complex pathogenesis, severe process, and poorly predicted variant of adolescent arthritis. The characteristic of sJA process is the development of severe life-threatening complications, which may lead to further functional and multi organ failure, delayed physical development, and patient disability. In this regard, it is necessary to diagnose this disease correctly in the early stages. Therefore, children suspected of having sJA should be hospitalized in the Rheumatology Department of a multidisciplinary hospital, where a complete set of diagnostic measures can be performed, according to the clinical recommendations and child care procedures on the "rheumatism" profile, it is very important to exclude systematic JA diseases, including infectious and ontological diseases, that occur under the "facial mask" at the diagnosis stage. Objective. To assess the compliance with clinical recommendations of the volume of diagnostic studies at the stage of establishing the diagnosis of primary systemic arthritis in the diagnostic stage in patients, included in the Federal Register, as patients with Malignant Tumors of Hemophilia, Mucosal Fibrosis, Pituitary Nanopathy, Gaucher's disease, Lymphoma, Hematopoietic Cells and Related Tissues, Multiple sclerosis, hemolytic uremic syndrome, systemic juvenile arthritis, type I, II, and VI mucosal glycans, facial features after organ and/or tissue transplantation. Patients and methods. A retrospective study of discharge summaries of 927 patients with an established diagnosis of sJA, receiving genetically engineered biological drugs, included in the Federal Register of persons with hemophilia, cystic fibrosis, pituitary dwarfism, Gaucher's disease, malignant neoplasms of lymphoid, hematopoietic and related tissues, multiple sclerosis, hemolytic -uremic syndrome, juvenile arthritis with systemic onset, mucopolysaccharidosis types I, II and VI, patients after organ and (or) tissue transplantation (hereinafter referred to as the Register). Results. Since the approval of the Procedure and Standards in 2012, the average amount of the researches required for exclusion of other diseases during the sJA diagnosis phase has increased by 20-30% average in comparison with the previous phase. Post-developmental period. Implementation of clinical recommendations and approving the Order No. 203n of the Ministry of Health of the Russian Federation (2017–2020), after updating clinical recommendations (2021–2022), the number of patients with research volume close to the required amount accounts for 40% to 80% – according to some studies, the number of patients has increased to 90%. Conclusion. Juvenile arthritis with systemic onset is the rarest and most severe variant of all types of juvenile arthritis, which in the absence of effective therapy leads to rapid disability in patients. Achieving compliance of the ongoing diagnostic studies with the list approved in the clinical guidelines “Juvenile arthritis with systemic onset”, increasing alertness regarding the differential diagnostic search to exclude diseases occurring under the “mask” of SJA, can be achieved as a result of the introduction and modernization of the digital technologies used healthcare, in particular the electronic Register system. Keywords: Federal Register, Systemic onset of juvenile arthritis, Diagnosis, Clinical recommendations