ФАМИЛНА СРЕДИЗЕМНОМОРСКА ТРЕСКА – КО ГА ДА МИСЛИМ ЗА НЕЯ?

Autor: Стоименов, Б., Колев, В., Панчева, Р., Пенчева, В., Манов, Е., Рунев, Н.
Zdroj: General Medicine / Obsta Medicina; 2019, Vol. 21 Issue 3, p52-54, 3p
Abstrakt: Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease caused by a mutation in a gene located on the short arm of the 16-th chromosome. It is characterized with recurrent febrile seizures accompanied by abdominal, chest or joints pain. The diagnosis is confirmed after a genetic test. А clinical case of 29-year-old man with newly diagnosed FMF with a heterozygous MEVF mutation is presented. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index