BACKGROUND Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene, followed by deficiency in α-galactosidase A (α-gal) activity. Nephrotic syndrome, as the renal phenotype of FD, is unusual. Here, we report the rare case of a patient with FD with nephrotic syndrome whose proteinuria disappeared by immunotherapy. CASE PRESENTATION A 67-year-old Japanese man was admitted to our hospital because of emesis, abdominal pain, and facial edema due to nephrotic syndrome. The patient was diagnosed with focal segmental glomerulosclerosis (FSGS) by renal biopsy before being diagnosed with FD, and immunotherapy was initiated. After treatment, the kidney biopsy results showed typical glycosphingolipid accumulation in the podocytes of this patient. The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD. Immunotherapy (steroids and cyclosporine A) dramatically improved the massive proteinuria. Currently, he has been undergoing enzyme replacement therapy, and his proteinuria has further decreased. There is the possibility that other nephrotic syndromes, such as minimal change nephrotic syndrome or FSGS, may co-exist in this patient. CONCLUSIONS We experienced the rare case of a FD patient whose nephrotic syndrome disappeared by immunotherapy. These findings suggest that immunosuppressive treatment may be considered if nephrotic syndrome develops, even in patients with FD.

中文翻译：

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免疫抑制疗法在晚期法布里病患者中对肾病综合征的疗效：一例病例报告和文献复习。

背景技术法布里病（FD）是由GLA基因突变引起的X连锁溶酶体贮积病，其后是α-半乳糖苷酶A（α-gal）活性不足。肾病综合征是FD的肾表型，是不寻常的。在这里，我们报告了罕见的肾病综合征FD患者的情况，其蛋白尿症通过免疫疗法消失了。病例介绍一名67岁的日本男子因呕吐，腹痛和肾病综合症引起的面部水肿入院。在被诊断为FD之前，该患者通过肾脏活检被诊断为局灶性节段性肾小球硬化症（FSGS），并开始了免疫治疗。治疗后，肾脏活检结果显示该患者足细胞中典型的糖鞘脂积聚。白细胞的α-gal活性很低，遗传分析显示，GLA基因变异（M296I）被称为FD的迟发性遗传突变。免疫疗法（类固醇和环孢菌素A）可显着改善大量蛋白尿。目前，他一直在接受酶替代疗法，其蛋白尿进一步减少。该患者有可能合并其他肾病综合征，例如微小变化肾病综合征或FSGS。结论我们经历了罕见的FD患者，其肾病综合征通过免疫疗法消失了。这些发现表明，即使发生FD病，如果发生肾病综合征，也可以考虑采用免疫抑制治疗。免疫疗法（类固醇和环孢菌素A）可显着改善大量蛋白尿。目前，他一直在接受酶替代疗法，其蛋白尿进一步减少。该患者有可能合并其他肾病综合征，例如微小变化肾病综合征或FSGS。结论我们经历了罕见的FD患者，其肾病综合征通过免疫疗法消失了。这些发现表明，即使发生FD病，如果发生肾病综合征，也可以考虑采用免疫抑制治疗。免疫疗法（类固醇和环孢菌素A）可显着改善大量蛋白尿。目前，他一直在接受酶替代疗法，其蛋白尿进一步减少。该患者有可能合并其他肾病综合征，例如微小变化肾病综合征或FSGS。结论我们经历了罕见的FD患者，其肾病综合征通过免疫疗法消失了。这些发现表明，即使发生FD病，如果发生肾病综合征，也可以考虑采用免疫抑制治疗。结论我们经历了罕见的FD患者，其肾病综合征通过免疫疗法消失了。这些发现表明，即使发生FD病，如果发生肾病综合征，也可以考虑采用免疫抑制治疗。结论我们经历了罕见的FD患者，其肾病综合征通过免疫疗法消失了。这些发现表明，即使发生FD病，如果发生肾病综合征，也可以考虑采用免疫抑制治疗。