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...

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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
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author 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
author_facet 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
author_sort Yabuuchi, Junko
collection PubMed
description 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.
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spelling pubmed-55670102017-09-01 AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations 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 Case Rep Nephrol Dial Case Report 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. S. Karger AG 2017-07-11 /pmc/articles/PMC5567010/ /pubmed/28868300 http://dx.doi.org/10.1159/000478006 Text en Copyright © 2017 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
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
AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
title AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
title_full AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
title_fullStr AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
title_full_unstemmed AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
title_short AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
title_sort aa amyloidosis and atypical familial mediterranean fever with exon 2 and 3 mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567010/
https://www.ncbi.nlm.nih.gov/pubmed/28868300
http://dx.doi.org/10.1159/000478006
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