Biomarcadores renais não convencionais em pacientes com Doença de Fabry

• Ano de defesa: 2025
• Autor(a) principal: Almeida, Igor Moreira de
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Palavras-chave em Português: Doenças Genéticas Ligadas ao Cromossomo X; Técnicas Imunoenzimáticas; Biomarcadores; Genetic Diseases, X-Linked; Immunoenzyme Techniques; Biomarkers; CNPQ::CIENCIAS BIOLOGICAS::FARMACOLOGIA
• Link de acesso: http://repositorio.ufc.br/handle/riufc/79993

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. It is a hereditary, progressive, and disabling disease, with nonspecific early symptoms that, over time, lead to cardiorenal complications that can cause death if left untreated. Studies with unconventional 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 unconventional renal biomarkers in FD. Fourteen individuals from a family with confirmed FD diagnosis, without clinical renal disease, from the Metropolitan Region of Fortaleza, Ceará State, 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 renal 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 (R Core Team, 2023, pacman, tidyr, dplyr, gtsummary, ggplot2, flextable packages), considering a p-value <0.05 as the significance criterion. The studied patients had a mean age of 35±12 years, with 78.6% (n=11) being female heterozygotes. The most recurrent clinical signs were headaches (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. Therefore, unconventional renal biomarkers appear to have superior diagnostic sensitivity compared to conventional parameters for detecting subclinical renal injury and may be related to dermatological manifestations in FD. Thus, they are laboratory markers with great potential for the early diagnosis of renal complications and organ dysfunction, helping in therapeutic decision-making.