Familial Mediterranean Fever: Current Approaches to Diagnosis and Treatment

Autor: Mikhail M. Kostik, Olga V. Zhogova, Natalia V. Lagunova, Sergey V. Ivanovskiy, Oksana L. Kolobova, Larisa N. Melnikova
Jazyk: English<br />Russian
Rok vydání: 2018
Předmět:
Zdroj: Вопросы современной педиатрии, Vol 17, Iss 5, Pp 371-380 (2018)
Druh dokumentu: article
ISSN: 1682-5527
1682-5535
DOI: 10.15690/vsp.v17i5.1953
Popis: Familial Mediterranean fever is a typical monogenic disease with an autosomal recessive inheritance pattern; caused by mutations in the MEFV gene, which encodes the pyrin protein. It is a relatively rare pathology in the practice of paediatricians and rheumatologists of the Russian Federation. The article provides up-to-date data on the disease prevalence, presents a complete clinical picture of the auto-inflammatory syndrome, discusses diagnostic criteria and methods for treating patients with familial Mediterranean fever.
Databáze: Directory of Open Access Journals