Журнал клинических случаев

Familial Mediterranean Fever E148Q/P369S/R408Q Exon 3 Variant with Severe Abdominal Pain and PFAPA-Like Symptoms

Abstract

Makiko Tajika, Mai Arai, Keiko Kobayashi, Koichiro Fujimaki, Kazunaga Agematsu and Yoh Umeda

Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. An accompanying of severe abdominal pain by the serotitis is characteristic of typical FMF. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms has been found in atypical type carrying P369SR408Q mutations in the responsible gene MEFV. FMF with both symptoms is extremely rare. An 8-year-old boy has had recurrent fever accompanied with both of severe abdominal pain and PFAPA like symptoms, carrying heterozygous alterations involving E148Q/P369S/ R408Q. The Corticosteroid resulted in partial benefit, but not clear effect by the colchicine, and persistent cure was not obtained by tonsillectomy.