法布雷病合并皮肌炎一例

周怡; 吴婵媛; 程康安; 王亮

doi:10.12376/j.issn.2097-0501.2023.01.015

法布雷病合并皮肌炎一例

doi: 10.12376/j.issn.2097-0501.2023.01.015

周怡¹,
吴婵媛²,
程康安³,
王亮^3, ,

1.
中国医学科学院北京协和医学院国家心血管病中心阜外医院心内科，北京 100037
2.
中国医学科学院北京协和医院免疫内科，北京 100730
3.
中国医学科学院北京协和医院心内科，北京 100730

基金项目:

中央高水平医院临床科研业务费 2022-PUMCH-A-181

详细信息

通信作者:
王亮，E-mail：wangliang@pumch.cn

中图分类号: R593.26;R596.1
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- 被引次数: 0
出版历程
- 收稿日期: 2022-11-12
- 录用日期: 2022-12-23
- 网络出版日期: 2023-03-07

A Case Report of Fabry Disease Associated with Dermatomyositis

1.
Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100037, China
2.
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
3.
Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funding:

National High Level Hospital Clinical Research Funding 2022-PUMCH-A-181

More Information

Corresponding author: WANG Liang E-mail: wangliang@pumch.cn

摘要

摘要: 法布雷病是一种X染色体伴性遗传的溶酶体贮积病，其发病机制为编码α-半乳糖苷酶A(α-Gal A)的基因发生突变导致α-Gal A功能缺失，进而导致未降解的神经酰胺三己糖苷(Gb-3)及其他鞘糖脂在细胞溶酶体中堆积，造成组织器官的功能障碍。本文报道了一例法布雷病合并皮肌炎患者的临床特点。该患者男性，61岁，临床表现为间断黑矇，合并四肢乏力及活动后憋喘。实验室检查提示α-Gal A活性下降，肌炎抗体谱阳性，故确诊法布雷病合并皮肌炎。同时本文回顾了相关文献，发现法布雷病患者合并自身免疫性疾病的情况十分罕见，但是法布雷病患者出现自身免疫抗体阳性的情况并不罕见，提示法布雷病与自身免疫性疾病可能在发病机制上存在关联性。
- 法布雷病 /
- 皮肌炎 /
- 自身免疫抗体
Abstract: Fabry disease is an X-linked lysosomal storage disease, and its pathogenesis is the deficient of α-galactosidase A (α-Gal A) activity caused by GLA mutation, which leads to accumulation of the glycosphingolipid globotriaosylceramide (Gb-3) and other glycosphingolipids in the lysosome of cells, resulting in the dysfunction of relevant tissues and organs. We report the clinical characteristics of a case of Fabry disease with dermatomyositis. The patient, a 61-year-old male, presented with intermittent amaurosis, limb weakness and dyspnea on exertion. Based on the low α-Gal A activity and positive anti-myositis antibodies, diagnosis of Fabry disease with dermatomyositis were confirmed. We reviewed the relevant literature and found that co-existence of Fabry disease and autoimmune diseases was very rare, but it is not rare for patients with Fabry disease to have some autoimmune antibody positive, suggesting that Fabry disease and autoimmune diseases may be related in pathogenesis.
- Fabry disease /
- dermatomyositis /
- autoimmune disease
注释:

作者贡献：周怡收集病例资料并撰写文章；王亮收集病例资料并对文章内容进行修改审阅；吴婵媛、程康安协助收集病例资料，对文章内容进行修改审阅。

利益冲突：所有作者均声明不存在利益冲突。

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图 1 患者的临床表现、影像学和病理结果

A.黑色箭头示眶周皮疹；B.肺部CT，红色箭头示双下肺纤维化表现；C.超声心动图，黄色箭头示增厚的室间隔；D.HE×100，右室间隔心内膜活检病理，心肌细胞空泡样变性明显

Figure 1. Clinical manifestations, imaging results and pathological findings of the patient

下载: 全尺寸图片幻灯片

图 2 患者家族谱系

■和●代表肥厚型心肌病；□和○代表无肥厚型心肌病；代表疑似心肌病；黑色箭头所示为本例患者

Figure 2. Family tree of the patient

下载: 全尺寸图片幻灯片

表 1 法布雷病合并自身免疫性疾病的病例特点总结

Table 1. Review of reported cases of Fabry disease with other systemic autoimmune diseases in adults

编号	作者	患者性别/年龄	合并的免疫病	临床特点	法布雷病诊断依据	治疗	参考文献
1	Arias等	女性/45岁	类风湿性关节炎	双上肢神经灼痛低热，关节疼痛无心脏受累	α-Gal A活性降低	泼尼松甲氨蝶呤	[22]
2	Nandagudi等	女性/38岁	系统性红斑狼疮，抗磷脂抗体综合征	心肌肥厚，胸痛关节疼痛，皮疹，口腔溃疡	心内膜活检 α-Gal A活性降低 GLA基因突变	酶替代疗法羟氯喹肝素	[23]
3	Hanaoka等	男性/29岁	肉芽肿性血管炎	鼻窦炎肺部多发结节新月体肾小球肾炎无心脏受累	α-Gal A活性降低	酶替代疗法泼尼松环磷酰胺	[24]
4	Chatre等	女性/61岁	系统性红斑狼疮	心肌肥厚，胸痛斑秃，皮疹缺血性脑卒中	心内膜活检 α-Gal A活性降低 GLA基因突变	泼尼松羟氯喹	[25]
5	Cortes等	女性/48岁	系统性硬化	心肌肥厚阵发性室速雷诺现象	GLA基因突变	ICD植入酶替代疗法甲氨蝶呤	[26]
6	本例	男性/61岁	皮肌炎	心肌肥厚高度房室传导阻滞蛋白尿，肾功能不全皮疹，肌力下降、肌痛	α-Gal A活性降低 GLA基因突变	起搏器植入甲泼尼龙吗替麦考酚酯
ICD: 植入型心律转复除颤器

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参考文献(27)

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