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家族性 HLA-B*52 血管炎:具有 Takayasu 动脉炎样主动脉炎和子代 Takayasu 动脉炎的非典型 Cogan 综合征的母系遗传。

Familial HLA-B*52 Vasculitis: Maternal, Atypical Cogan's Syndrome with Takayasu Arteritis-mimicking Aortitis and Filial Takayasu Arteritis.

机构信息

Division of Rheumatology, Ibaraki Prefectural Central Hospital, Japan.

Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Japan.

出版信息

Intern Med. 2020 Aug 1;59(15):1899-1904. doi: 10.2169/internalmedicine.4067-19. Epub 2020 Apr 23.

Abstract

Cogan's syndrome (CS), a rare vasculitis characterized by non-syphilitic, interstitial keratitis and Ménière-like attacks, is classified into "typical" and "atypical" forms, while Takayasu arteritis (TAK) is a rare large-vessel vasculitis associated with human leukocyte antigen (HLA)-B52. Very few cases meet both the CS and TAK classification criteria. We herein report a 53-year-old woman diagnosed with atypical CS and aortitis similar to TAK. Her 25-year-old daughter manifested TAK without symptoms of CS, and both are HLA-B52 positive. Our case highlights the difficulties of distinguishing aortitis with atypical CS from aortitis with TAK.

摘要

科根综合征(CS)是一种罕见的血管炎,其特征是非梅毒性间质性角膜炎和梅尼埃样发作,分为“典型”和“非典型”两种形式,而 Takayasu 动脉炎(TAK)是一种罕见的与人类白细胞抗原(HLA)-B52 相关的大血管血管炎。非常少有的病例同时符合 CS 和 TAK 的分类标准。本文报告了一例 53 岁女性,被诊断为非典型 CS 和类似于 TAK 的主动脉炎。她 25 岁的女儿表现为 TAK,无 CS 症状,且两者均为 HLA-B52 阳性。本病例强调了区分具有非典型 CS 的主动脉炎与具有 TAK 的主动脉炎的困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41d9/7474986/5fb132001874/1349-7235-59-1899-g001.jpg

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