The Role of Kidney Biopsy in Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in multiple organs. This acc...
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MDPI AG
2025-03-01
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| author | Irene Capelli Laura Martano Gian Marco Berti Gisella Vischini Sarah Lerario Vincenzo Donadio Alex Incensi Valeria Aiello Francesca Ciurli Benedetta Fabbrizio Stefano Chilotti Renzo Mignani Gianandrea Pasquinelli Gaetano La Manna |
| author_facet | Irene Capelli Laura Martano Gian Marco Berti Gisella Vischini Sarah Lerario Vincenzo Donadio Alex Incensi Valeria Aiello Francesca Ciurli Benedetta Fabbrizio Stefano Chilotti Renzo Mignani Gianandrea Pasquinelli Gaetano La Manna |
| author_sort | Irene Capelli |
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| description | Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in multiple organs. This accumulation can result in multisystemic disease and life-threatening complications. FD presents with a broad phenotypic spectrum, ranging from the classic form, with early and severe symptoms, to a later-onset form with variable manifestations. The severity of the disease in females is more variable due to X-chromosome inactivation (XCI). Renal involvement is a key feature, and kidney biopsy remains a valuable tool for diagnosing FD and assessing the extent of nephropathy. Although molecular genetic testing is the gold standard for diagnosis, kidney biopsy aids in confirming renal involvement, detecting coexisting conditions, and determining the pathogenicity of variants of uncertain significance (VUSs). Moreover, kidney biopsy can serve as a prognostic tool by identifying early markers of nephropathy, such as foot process effacement and glomerular sclerosis, which predict disease progression. Emerging technologies, including machine learning, offer the potential to enhance the analysis of renal histology, improving diagnostic accuracy and patient stratification. Despite the challenges posed by overlapping diseases and potential misdiagnoses, kidney biopsy remains an essential component of FD diagnosis and management, facilitating early detection, the monitoring of disease progression, and the evaluation of therapeutic responses. |
| format | Article |
| id | doaj-art-af4a52e3e7824da59eecfd9627c5fe7f |
| institution | DOAJ |
| issn | 2227-9059 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj-art-af4a52e3e7824da59eecfd9627c5fe7f2025-08-20T03:14:17ZengMDPI AGBiomedicines2227-90592025-03-0113476710.3390/biomedicines13040767The Role of Kidney Biopsy in Fabry DiseaseIrene Capelli0Laura Martano1Gian Marco Berti2Gisella Vischini3Sarah Lerario4Vincenzo Donadio5Alex Incensi6Valeria Aiello7Francesca Ciurli8Benedetta Fabbrizio9Stefano Chilotti10Renzo Mignani11Gianandrea Pasquinelli12Gaetano La Manna13Nephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, ItalyDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, ItalyNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyNeuromuscular and Neuroimmunology Unit, Bellaria Hospital, IRCCS Institute of Neurological Sciences of Bologna, 40139 Bologna, ItalyNeuromuscular and Neuroimmunology Unit, Bellaria Hospital, IRCCS Institute of Neurological Sciences of Bologna, 40139 Bologna, ItalyNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyPathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyPathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, ItalyNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in multiple organs. This accumulation can result in multisystemic disease and life-threatening complications. FD presents with a broad phenotypic spectrum, ranging from the classic form, with early and severe symptoms, to a later-onset form with variable manifestations. The severity of the disease in females is more variable due to X-chromosome inactivation (XCI). Renal involvement is a key feature, and kidney biopsy remains a valuable tool for diagnosing FD and assessing the extent of nephropathy. Although molecular genetic testing is the gold standard for diagnosis, kidney biopsy aids in confirming renal involvement, detecting coexisting conditions, and determining the pathogenicity of variants of uncertain significance (VUSs). Moreover, kidney biopsy can serve as a prognostic tool by identifying early markers of nephropathy, such as foot process effacement and glomerular sclerosis, which predict disease progression. Emerging technologies, including machine learning, offer the potential to enhance the analysis of renal histology, improving diagnostic accuracy and patient stratification. Despite the challenges posed by overlapping diseases and potential misdiagnoses, kidney biopsy remains an essential component of FD diagnosis and management, facilitating early detection, the monitoring of disease progression, and the evaluation of therapeutic responses.https://www.mdpi.com/2227-9059/13/4/767biopsyhistopathologyFabry nephropathypodocyteinclusions |
| spellingShingle | Irene Capelli Laura Martano Gian Marco Berti Gisella Vischini Sarah Lerario Vincenzo Donadio Alex Incensi Valeria Aiello Francesca Ciurli Benedetta Fabbrizio Stefano Chilotti Renzo Mignani Gianandrea Pasquinelli Gaetano La Manna The Role of Kidney Biopsy in Fabry Disease Biomedicines biopsy histopathology Fabry nephropathy podocyte inclusions |
| title | The Role of Kidney Biopsy in Fabry Disease |
| title_full | The Role of Kidney Biopsy in Fabry Disease |
| title_fullStr | The Role of Kidney Biopsy in Fabry Disease |
| title_full_unstemmed | The Role of Kidney Biopsy in Fabry Disease |
| title_short | The Role of Kidney Biopsy in Fabry Disease |
| title_sort | role of kidney biopsy in fabry disease |
| topic | biopsy histopathology Fabry nephropathy podocyte inclusions |
| url | https://www.mdpi.com/2227-9059/13/4/767 |
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