CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).

Autor:	Pereira EM; Universidade Federal do Piauí, Teresina, PI, Brasil., Silva ASD; Universidade Federal do Piauí, Teresina, PI, Brasil., Silva RND; Universidade Federal do Piauí, Teresina, PI, Brasil., Monte Neto JT; Universidade Federal do Piauí, Teresina, PI, Brasil., Nascimento FFD; Universidade Federal do Piauí, Teresina, PI, Brasil., Sousa JLM; Universidade Federal do Piauí, Teresina, PI, Brasil., Costa Filho HCSAL; Universidade Federal do Piauí, Teresina, PI, Brasil., Sales Filho HLA; Universidade Federal do Piauí, Teresina, PI, Brasil., Labilloy A; Universidade Federal do Piauí, Teresina, PI, Brasil., Monte SJHD; Universidade Federal do Piauí, Teresina, PI, Brasil.
Jazyk:	English; Portuguese
Zdroj:	Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia [J Bras Nefrol] 2018 Oct-Dec; Vol. 40 (4), pp. 333-338. Date of Electronic Publication: 2018 Jun 04.
DOI:	10.1590/2175-8239-JBN-3910
Abstrakt:	Introduction: 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). Objective: The purpose of this study was to evaluate the CD77 levels throughout ERT in FD patients (V269M mutation). Methods: 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. Results: 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. Conclusion: 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.
Databáze:	MEDLINE
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