法布里病心肌病病程中的心包积液：一例报告
Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report.
作者信息
Tsuruda Toshihiro, Higashi Yoshimasa, Gi Toshihiro, Nakao Shoichiro
机构信息
Department of Internal Medicine, Circulatory and Body Fluid Regulation, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki 889-1692, Japan.
Department of Internal Medicine, Saigo Hospital, 29 Saigo-Tashiro, Misato, Higashi-Usuki, Miyazaki 883-1101, Japan.
出版信息
Eur Heart J Case Rep. 2021 Oct 7;5(10):ytab407. doi: 10.1093/ehjcr/ytab407. eCollection 2021 Oct.
BACKGROUND
Fabry disease (FD) is an X-chromosome-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
CASE SUMMARY
A 51-year-old Japanese woman with a previous diagnosis of FD presented with pericardial effusion. The exudative pericardial fluid contained globotriaosylsphingosine. Left ventricular hypertrophy progressed despite regular administration of agalsidase alfa every 2 weeks over a 7-year period, with increases in plasma levels of globotriaosylsphingosine and interleukin (IL)-18. In addition, the IL-6 level in the pericardial fluid was markedly higher than that in plasma.
DISCUSSION
This case suggests that elevated IL-6 and IL-18 levels in pericardial fluid and plasma indicate the severity of FD cardiomyopathy.
背景
法布里病（FD）是一种X染色体连锁的糖鞘脂代谢遗传性疾病，由于溶酶体α - 半乳糖苷酶A活性缺乏或缺失所致。
病例摘要
一名51岁的日本女性，既往诊断为FD，现出现心包积液。渗出性心包液中含有Globotriaosylsphingosine。尽管在7年期间每2周定期给予阿加糖酶α，但左心室肥厚仍有进展，同时血浆中Globotriaosylsphingosine和白细胞介素（IL）-18水平升高。此外，心包液中的IL - 6水平明显高于血浆中的水平。
讨论
该病例表明，心包液和血浆中IL - 6和IL - 18水平升高提示FD心肌病的严重程度。
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