法布里病的影像学特征。
Imaging features of Fabry disease.
作者信息
Lidove Olivier, Klein Isabelle, Lelièvre Jean-Daniel, Lavallée Philippa, Serfaty Jean-Michel, Dupuis Emmanuel, Papo Thomas, Laissy Jean-Pierre
机构信息
Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 46 rue Henri Huchard, 75722 Paris, Cedex 18, France.
出版信息
AJR Am J Roentgenol. 2006 Apr;186(4):1184-91. doi: 10.2214/AJR.05.0019.
OBJECTIVE
Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase alpha-galactosidase A, displays more complications in men than in heterozygous women.
CONCLUSION
It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.
目的
我们的目的是描述法布里病的各种影像学表现，包括脑血管、肾脏、心脏及其他器官受累情况。法布里病是一种X连锁隐性糖鞘脂分解代谢先天性疾病，由水解酶α-半乳糖苷酶A活性缺乏所致，男性患者比杂合子女性患者出现更多并发症。
结论
放射科医生应负责做出诊断，帮助临床医生尽早对患者进行酶替代治疗，并监测其疗效。
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