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. 2025 May 26;26(1):258.
doi: 10.1186/s12882-025-04189-x.

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease

Seyda Gul Ozcan  1 , Necmi Eren  2 , Mevlut Tamer Dincer  3 , Zeynep Atli  4 , Murat Bolayirli  5 , Metin Ergul  2 , Hakan Ozer  6 , Kultigin Turkmen  6 , Sinan Trabulus  3 , Nurhan Seyahi  3
Affiliations

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease

Seyda Gul Ozcan et al. BMC Nephrol. .

Abstract

Background: Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity. This study aimed to evaluate the association between multiple plasma biomarkers and disease activity in Fabry disease.

Methods: A cross-sectional analysis was conducted involving 87 Fabry patients, 46 chronic kidney disease (CKD) patients, and 41 healthy controls. Plasma levels of KIM-1, MCP-1, YKL-40, TNFR-1, TNFR-2, and cystatin-C were measured using ELISA. eGFR was calculated using creatinine and creatinine-cystatin C-based CKD-EPI formulas. Fabry patients on renal replacement therapy were analyzed as a subgroup. Primary analyses focused on 62 Fabry patients receiving enzyme replacement therapy.

Results: Although eGFR (cr) did not differ significantly between Fabry patients and healthy controls, eGFR(cr-cys) was significantly lower in Fabry patients. After adjusting for age, gender, and BMI, MCP-1 and TNFR-2 levels were significantly lower in Fabry patients than in CKD patients. Among Fabry patients, those with renal involvement, had significantly higher MCP-1 levels than those without. While KIM-1 and YKL-40 did not differ significantly between groups, both were significantly elevated in patients with Lyso-Gb3 > 4 ng/mL and positively correlated with Lyso-Gb3.

Conclusion: MCP-1, TNFR-2, YKL-40, and cystatin C may serve as potential biomarkers for different aspects of Fabry disease activity. Further investigation into the associated pathogenic pathways may support the development of novel diagnostic tools or targeted therapies.

Keywords: Fabry disease; Genetic kidney disease; Plasma biomarkers.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study was approved by the Ethics Committee of Istanbul Training and Research Hospital (approval no: 67) and conducted according to the Declaration of Helsinki. Informed consent was taken from all patients. Consent for publication: All participants provided informed consent for participation and publication of anonymized data. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Comparison of biomarker levels in Fabry patients, CKD patients, and healthy control groups. HC: Healthy control CKD: Chronic kidney disease patients. ** MCP-1 p:0.062 ***Cystatin C p:<0.0011,3. 1HC-CKD, 2CKD-Fabry, 3HC-Fabry. The middle line represents the median value, the bottom and top edges of the box represent the 25th and 75th percentiles, and the whiskers indicate the minimum and maximum values
Fig. 2
Fig. 2
Comparison of biomarker levels in Fabry patients with renal involvement, patient control, and healthy control groups. HC: Healthy control CKD: Chronic kidney disease patients. ***Cystatin C p:<0.0011,3. 1HC-CKD, 2CKD-Fabry, 3HC-Fabry. The middle line represents the median value, the bottom and top edges of the box represent the 25th and 75th percentiles, and the whiskers indicate the minimum and maximum values
Fig. 3
Fig. 3
Comparison of biomarker levels in Fabry patients without renal involvement, patient control, and healthy control groups. HC: Healthy control CKD: Chronic kidney disease patients. TNFR-2 p:0.0292,3 ***MCP-1 p:0.0012 ***Cystatin C p:<0.0011,3. 1HC-CKD, 2CKD-Fabry, 3HC-Fabry. The middle line represents the median value, the bottom and top edges of the box represent the 25th and 75th percentiles, and the whiskers indicate the minimum and maximum values
Fig. 4
Fig. 4
Comparison of biomarker levels in Fabry disease subgroups with and without renal involvement. *MCP-1 p:0.019. The middle line represents the median value, the bottom and top edges of the box represent the 25th and 75th percentiles, and the whiskers indicate the minimum and maximum values
Fig. 5
Fig. 5
Comparison of biomarker levels in Fabry disease subgroups with and without cardiac involvement. The middle line represents the median value, the bottom and top edges of the box represent the 25th and 75th percentiles, and the whiskers indicate the minimum and maximum values
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