Prasad Pallavi, Singh Anshima, Yachha Monika, Agrawal Vinita, Pandey Rakesh, Jain Manoj, Bhadauria Dharmendra
Department of Pathology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Department of Nephrology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Indian J Nephrol. 2022 Nov-Dec;32(6):625-628. doi: 10.4103/ijn.ijn_263_21. Epub 2022 Oct 2.
Fabry disease (FD) is a rare, lysosomal storage disorder characterized by multiorgan accumulation of predominantly globotriaosylceramide (GL3) and its metabolite. Resulting renal, cardiac, and cerebrovascular complications are crucial causes of morbidity and mortality in FD. Enzyme replacement therapy (ERT) shows promising outcomes for these patients, provided that therapy is initiated early. Thus, precise and early diagnosis of the disease is a pivotal factor determining the corollary of the disease. We report two cases of young adult males who presented to the nephrology department with proteinuria. A kidney biopsy was performed in both cases, which was suggestive of FD. The final conclusive diagnosis of FD was provided by electron microscopy.
法布里病（FD）是一种罕见的溶酶体贮积症，其特征是多器官中主要为Globotriaosylceramide（GL3）及其代谢产物的蓄积。由此导致的肾脏、心脏和脑血管并发症是法布里病发病和死亡的关键原因。酶替代疗法（ERT）对这些患者显示出有前景的疗效，前提是早期开始治疗。因此，疾病的准确早期诊断是决定疾病转归的关键因素。我们报告了两例成年男性患者，他们因蛋白尿就诊于肾内科。两例均进行了肾活检，提示为法布里病。法布里病的最终确诊由电子显微镜检查提供。
