TY - JOUR AU - Ilchenko, Svitlana AU - Fialkovska, Anastasiia AU - Ivanus, Svitlana AU - Baralei, Tetiana PY - 2021/05/18 Y2 - 2024/03/28 TI - A Rare Case of a Severe Course of Systemic Onset of Juvenile Idiopathic Arthritis Associated with MEFV Gene Mutations in a 12-year-old Girl JF - Journal of Rare Diseases and Orphan Drugs JA - jrdod VL - 2 IS - SE - Articles DO - 10.36013/jrdod.v2i.61 UR - https://spphllc.com/jrdod/article/view/61 SP - 24 - 29 AB - Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. MEFV (Mediterranean fever, FMF) gene mutations are observed in systemic-onset JIA, that in addition to increasing the risk of JIA development, worsen the disease prognosis. We reported a rare case of a severe systemic-onset JIA associated with MEFV gene mutations in a 12-year-old girl. The patient had an aggressive disease course and resistance to conventional immunosuppressive agents. This case confirms the difficulties of diagnostic and treatment of systemic JIA (sJIA) associated with FMF. Currently, there are no established criteria for the definition or differential diagnosis of arthritis associated with FMF. The severe prognosis of JIA associated with FMF should motivate clinicians to initiate aggressive therapy early. ER -