Systemic vasculitis associated with α1-antitrypsin deficiency

Yasushi Takii; Hisako Inoue; Eiji Karashima; Mitsuteru Akahoshi; Isao Furugo; Sachiko Hattori; Motoko Yamanaka; Sachiko Kinoshita; Naotaka Hamasaki; Kazuya Shimoda; Hiroshi Nakashima; Hiroshi Tsukamoto; Takahiko Horiuchi; Takeshi Otsuka; Mine Harada

doi:10.2169/internalmedicine.42.619

Systemic vasculitis associated with α1-antitrypsin deficiency

Yasushi Takii, Hisako Inoue, Eiji Karashima, Mitsuteru Akahoshi, Isao Furugo, Sachiko Hattori, Motoko Yamanaka, Sachiko Kinoshita, Naotaka Hamasaki, Kazuya Shimoda, Hiroshi Nakashima, Hiroshi Tsukamoto, Takahiko Horiuchi, Takeshi Otsuka, Mine Harada

Internal Medicine

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

We describe a rare case of systemic vasculitis associated with α1-antitrypsin (α1-AT) deficiency. Mutational analysis of the α1-AT gene in this patient revealed a homozygous α1-AT Mnichinan variant. α1-AT possesses broad-spectrum inhibitory activity against many serine proteases, including human neutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of α1-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site.

Original language	English
Pages (from-to)	619-623
Number of pages	5
Journal	Internal Medicine
Volume	42
Issue number	7
DOIs	https://doi.org/10.2169/internalmedicine.42.619
Publication status	Published - Jul 1 2003

All Science Journal Classification (ASJC) codes

Internal Medicine

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10.2169/internalmedicine.42.619

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abstract = "We describe a rare case of systemic vasculitis associated with α1-antitrypsin (α1-AT) deficiency. Mutational analysis of the α1-AT gene in this patient revealed a homozygous α1-AT Mnichinan variant. α1-AT possesses broad-spectrum inhibitory activity against many serine proteases, including human neutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of α1-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site.",

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T1 - Systemic vasculitis associated with α1-antitrypsin deficiency

AU - Takii, Yasushi

AU - Inoue, Hisako

AU - Karashima, Eiji

AU - Akahoshi, Mitsuteru

AU - Furugo, Isao

AU - Hattori, Sachiko

AU - Yamanaka, Motoko

AU - Kinoshita, Sachiko

AU - Hamasaki, Naotaka

AU - Shimoda, Kazuya

AU - Nakashima, Hiroshi

AU - Tsukamoto, Hiroshi

AU - Horiuchi, Takahiko

AU - Otsuka, Takeshi

AU - Harada, Mine

PY - 2003/7/1

Y1 - 2003/7/1

N2 - We describe a rare case of systemic vasculitis associated with α1-antitrypsin (α1-AT) deficiency. Mutational analysis of the α1-AT gene in this patient revealed a homozygous α1-AT Mnichinan variant. α1-AT possesses broad-spectrum inhibitory activity against many serine proteases, including human neutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of α1-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site.

AB - We describe a rare case of systemic vasculitis associated with α1-antitrypsin (α1-AT) deficiency. Mutational analysis of the α1-AT gene in this patient revealed a homozygous α1-AT Mnichinan variant. α1-AT possesses broad-spectrum inhibitory activity against many serine proteases, including human neutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of α1-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site.

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JO - Internal Medicine

JF - Internal Medicine

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Systemic vasculitis associated with α1-antitrypsin deficiency

Abstract

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