Pereira Ester Miranda, Silva Adalberto Socorro da, Silva Raimundo Nonato da, Monte Neto José Tiburcio, Nascimento Fernando F do, Sousa Jackeline L M, Costa Filho Henrique César Saraiva de Arêa Leão, Sales Filho Herton Luiz Alves, Labilloy Anatalia, Monte Semiramis Jamil Hadad do
Universidade Federal do Piauí, Teresina, PI, Brasil.
J Bras Nefrol. 2018 Oct-Dec;40(4):333-338. doi: 10.1590/2175-8239-JBN-3910. Epub 2018 Jun 4.
Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme α-galactosidase A (α-GAL). Reduced α-GAL activity leads to progressive accumulation of globotriaosylceramide (Gb3), also known as CD77. The recent report of increased expression of CD77 in blood cells of patients with FD indicated that this molecule can be used as a potential marker for monitoring enzyme replacement therapy (ERT).
The purpose of this study was to evaluate the CD77 levels throughout ERT in FD patients (V269M mutation).
We evaluated the fluctuations in PBMC (peripheral blood mononuclear cell) membrane CD77 expression in FD patients undergoing ERT and correlated these levels with those observed in different cell types.
A greater CD77 expression was found in phagocytes of patients compared to controls at baseline. Interestingly, the variability in CD77 levels is larger in patients at baseline (340 - 1619 MIF) and after 12 months of ERT (240 - 530 MIF) compared with the control group (131 - 331 MFI). Furthermore, by analyzing the levels of CD77 in phagocytes from patients throughout ERT, we found a constant decrease in CD77 levels.
The increased CD77 levels in the phagocytes of Fabry carriers together with the decrease in CD77 levels throughout ERT suggest that measuring CD77 levels in phagocytes is a promising tool for monitoring the response to ERT in FD.
法布里病（FD）是一种由编码溶酶体酶α - 半乳糖苷酶A（α - GAL）的基因突变引起的疾病。α - GAL活性降低导致球三糖神经酰胺（Gb3，也称为CD77）逐渐积累。最近关于FD患者血细胞中CD77表达增加的报告表明，该分子可作为监测酶替代疗法（ERT）的潜在标志物。
本研究的目的是评估法布里病患者（V269M突变）在整个ERT过程中的CD77水平。
我们评估了接受ERT的法布里病患者外周血单个核细胞（PBMC）膜CD77表达的波动情况，并将这些水平与不同细胞类型中观察到的水平进行关联。
与对照组相比，患者基线时吞噬细胞中的CD77表达更高。有趣的是，与对照组（131 - 331平均荧光强度）相比，患者基线时（340 - 1619平均荧光强度）和ERT 12个月后（240 - 530平均荧光强度）CD77水平的变异性更大。此外，通过分析患者在整个ERT过程中吞噬细胞中CD77的水平，我们发现CD77水平持续下降。
法布里病携带者吞噬细胞中CD77水平升高以及整个ERT过程中CD77水平下降表明，测量吞噬细胞中的CD77水平是监测法布里病患者对ERT反应的一种有前景的工具。
