Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience
Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney patients who are not dependent on dialysis (NDD-CKD)...
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| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Renal Failure |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/0886022X.2025.2454295 |
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| author | Yuri Battaglia Federica Baciga Meilad Shakkour Savio Russo Giulia Carnicella Michela Erlati Gemma Sartori Giulia Tronconi Renzo Mignani Federico Pieruzzi Paolo Colomba Laura Scichilone Michele Andreucci Concetto Sessa Giovanni Duro |
| author_facet | Yuri Battaglia Federica Baciga Meilad Shakkour Savio Russo Giulia Carnicella Michela Erlati Gemma Sartori Giulia Tronconi Renzo Mignani Federico Pieruzzi Paolo Colomba Laura Scichilone Michele Andreucci Concetto Sessa Giovanni Duro |
| author_sort | Yuri Battaglia |
| collection | DOAJ |
| description | Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney patients who are not dependent on dialysis (NDD-CKD) is likely underestimated due to restrictive inclusion criteria and methodological shortcomings. This study aims to assess the prevalence of FD in NDD-CKD patients using an expanded screening approach. Ongoing outpatients attending Italian nephrology clinics were screened by assay of plasma α-galactosidase A (α-Gal A) activity. Genetic testing was also performed in all females and males with low α-Gal A activity. Inclusion criteria were: (1) females ≥18 years old; (2) males aged between 18 and 70 years; (3) NDD-CKD stages 1–5. Patients with histological diagnosis of glomerulonephritis or diagnosis of autosomal dominant polycystic kidney disease (ADPKD) were excluded. Demographic data and laboratory results were also collected. Among 385 NDD-CKD outpatients, 173 underwent screening. One patient with three family members carrying a novel mutation (c.320 A > G, p.Q107R); one patient with three family members carrying a silent mutation (c.48 T > G, p.L16L) and two patients with a missense mutation (c.376A > G, p.S126G), were identified. Overall, the prevalence of FD was 2.3%, increasing to 5.4% (10 in 183) with family screening. FD may be more common than previously believed, particularly within NDD-CKD populations. FD screening should be expanded to include NDD-CKD patients with known causes of CKD, such as hypertension and diabetes mellitus, and genetic testing should be routinely used for female patients. |
| format | Article |
| id | doaj-art-7c9c726df3614ebc869003dd89aaf796 |
| institution | Kabale University |
| issn | 0886-022X 1525-6049 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
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| series | Renal Failure |
| spelling | doaj-art-7c9c726df3614ebc869003dd89aaf7962025-02-05T03:56:54ZengTaylor & Francis GroupRenal Failure0886-022X1525-60492025-12-0147110.1080/0886022X.2025.2454295Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experienceYuri Battaglia0Federica Baciga1Meilad Shakkour2Savio Russo3Giulia Carnicella4Michela Erlati5Gemma Sartori6Giulia Tronconi7Renzo Mignani8Federico Pieruzzi9Paolo Colomba10Laura Scichilone11Michele Andreucci12Concetto Sessa13Giovanni Duro14Department of Medicine, University of Verona, Verona, ItalyDepartment of Medicine, University of Verona, Verona, ItalyDepartment of Medicine, University of Verona, Verona, ItalyDepartment of Medicine, University of Verona, Verona, ItalyDepartment of Medicine, University of Verona, Verona, ItalyNephrology and Dialysis Unit, Pederzoli Hospital, Peschiera del Garda, Verona, ItalyNephrology and Dialysis Unit, Pederzoli Hospital, Peschiera del Garda, Verona, ItalyNephrology and Dialysis Unit, Pederzoli Hospital, Peschiera del Garda, Verona, ItalyNephrology, Dialysis and Transplantation, IRCCS S. Orsola Hospital, University of Bologna, Bologna, ItalyClinical Nephrology, School of Medicine and Surgery, University of Milano, Milan, ItalyInstitute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), Palermo, ItalyNephrology and Dialysis Unit, St. Anna University Hospital, Ferrara, ItalyDepartment of Health Sciences, “Magna Graecia” University, Catanzaro, ItalyNephrology Unit, Ragusa Hospital, Ragusa, ItalyInstitute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), Palermo, ItalyFabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney patients who are not dependent on dialysis (NDD-CKD) is likely underestimated due to restrictive inclusion criteria and methodological shortcomings. This study aims to assess the prevalence of FD in NDD-CKD patients using an expanded screening approach. Ongoing outpatients attending Italian nephrology clinics were screened by assay of plasma α-galactosidase A (α-Gal A) activity. Genetic testing was also performed in all females and males with low α-Gal A activity. Inclusion criteria were: (1) females ≥18 years old; (2) males aged between 18 and 70 years; (3) NDD-CKD stages 1–5. Patients with histological diagnosis of glomerulonephritis or diagnosis of autosomal dominant polycystic kidney disease (ADPKD) were excluded. Demographic data and laboratory results were also collected. Among 385 NDD-CKD outpatients, 173 underwent screening. One patient with three family members carrying a novel mutation (c.320 A > G, p.Q107R); one patient with three family members carrying a silent mutation (c.48 T > G, p.L16L) and two patients with a missense mutation (c.376A > G, p.S126G), were identified. Overall, the prevalence of FD was 2.3%, increasing to 5.4% (10 in 183) with family screening. FD may be more common than previously believed, particularly within NDD-CKD populations. FD screening should be expanded to include NDD-CKD patients with known causes of CKD, such as hypertension and diabetes mellitus, and genetic testing should be routinely used for female patients.https://www.tandfonline.com/doi/10.1080/0886022X.2025.2454295Lysosomal disordersglobotriaosylceramideCKDprevalence |
| spellingShingle | Yuri Battaglia Federica Baciga Meilad Shakkour Savio Russo Giulia Carnicella Michela Erlati Gemma Sartori Giulia Tronconi Renzo Mignani Federico Pieruzzi Paolo Colomba Laura Scichilone Michele Andreucci Concetto Sessa Giovanni Duro Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience Renal Failure Lysosomal disorders globotriaosylceramide CKD prevalence |
| title | Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience |
| title_full | Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience |
| title_fullStr | Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience |
| title_full_unstemmed | Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience |
| title_short | Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience |
| title_sort | expanded screening for fabry disease in patients with chronic kidney disease not on dialysis a multicenter italian experience |
| topic | Lysosomal disorders globotriaosylceramide CKD prevalence |
| url | https://www.tandfonline.com/doi/10.1080/0886022X.2025.2454295 |
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