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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Fabry Disease (FD) is a lysosomal storage disorder caused by genetic variants of the GLA gene on the X chromosome, resulting in absent or reduced activity of the enzyme alpha- galactosidase A. Studies with non-traditional biomarkers are important for detecting early organ dysfunction, even in asymptomatic cases, and identifying risk groups for complications, thus delaying disease progression. The present study aimed to evaluate non-traditional kidney biomarkers in FD.
Fourteen individuals from a family with confirmed FD diagnosis, without clinical kidney disease, from the Metropolitan Region of Fortaleza, Ceara, Brazil, were evaluated. After physical and clinical examinations, the patients underwent blood and urine sample collection for laboratory parameter analysis. The control group consisted of 31 healthy volunteers. Complete blood count and conventional kidney parameters were obtained using an automated biochemical analyzer. The unconventional biomarkers (urinary Nephrin, MCP-1, and NGAL) were evaluated by enzyme immunoassay. Statistical analysis was performed using R Studio software, considering a p-value <0.05 as the significance criterion.
The studied patients had a mean age of 35±12 years, with 78.6% being female heterozygotes. The most recurrent clinical signs were headache (71.4%), neuropathic pain (57.1%), palpitations (50%), and angiokeratomas (42.9%). Urinary MCP-1 and NGAL levels were higher in the FD group than in the control group (p<0.001), with no changes in conventional markers. Elevated MCP-1 (p<0.001) and Nephrin (p=0.048) levels were associated with dermatological alterations in the patients.
Non-traditional kidney biomarkers appear to have superior diagnostic sensitivity compared to conventional parameters for detecting subclinical kidney injury and may be related to dermatological manifestations in FD. These biomarkers abnormalities could be used as a possible parameter to indicate early specific treatment in FD.
