AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations

A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Medi...

Descripción completa

Detalles Bibliográficos
Autores principales: Yabuuchi, Junko, Hayami, Noriko, Hoshino, Junichi, Sumida, Keiichi, Suwabe, Tatsuya, Ueno, Toshiharu, Sekine, Akinari, Kawada, Masahiro, Yamanouchi, Masayuki, Hiramatsu, Rikako, Hasegawa, Eiko, Sawa, Naoki, Takaichi, Kenmei, Fujii, Takeshi, Ohashi, Kenichi, Migita, Kiyoshi, Masaki, Takao, Ubara, Yoshifumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567010/
https://www.ncbi.nlm.nih.gov/pubmed/28868300
http://dx.doi.org/10.1159/000478006
Descripción
Sumario:A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/R202Q) and exon 3 (P369S/R408Q), although he had none of the exon 10 mutations known to be closely related to AA amyloidosis. He did not respond to infliximab, but tocilizumab therapy was successful. The present case is a rare report of AA amyloidosis associated with familial Mediterranean fever in Japan.

Ejemplares similares