Bibliographic Details
| Title: |
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease |
| Authors: |
Gian Marco Berti, Valeria Aiello, Gisella Vischini, Sarah Lerario, Francesca Ciurli, Marisa Santostefano, Vincenzo Donadio, Elena Biagini, Michela Fresina, Benedetta Fabbrizio, Francesca Montanari, Daniela Turchetti, Gianandrea Pasquinelli, Renzo Mignani, Gaetano La Manna, Irene Capelli |
| Source: |
BMC Nephrology, Vol 26, Iss 1, Pp 1-6 (2025) |
| Publisher Information: |
BMC, 2025. |
| Publication Year: |
2025 |
| Collection: |
LCC:Diseases of the genitourinary system. Urology |
| Subject Terms: |
Anderson-Fabry Disease, Kidney biopsy, Zebra bodies, Genetic test, Diseases of the genitourinary system. Urology, RC870-923 |
| More Details: |
Abstract Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved globotriaosylceramide (Gb3) and its deacylated form, lyso-globotriaosylceramide (Lyso-Gb3), leading to progressive organ damage and functional impairment. The diagnostic evaluation for AFD involves clinical assessment and family history, supported by biochemical testing (α-Gal A enzyme activity and Lyso-Gb3 levels) and genetic analysis of the GLA gene. In cases of unexplained renal impairment or when genetic analysis is inconclusive, kidney biopsy is often required to confirm the diagnosis and guide targeted treatments. However, histological findings in kidney biopsies may sometimes be nonspecific, complicating the diagnostic process. This article aims to provide an updated perspective on the role of kidney biopsy in AFD, illustrating two cases that exemplify its pivotal role in confirming or excluding the suspected disease, proving to be both decisive and confounding in this complex clinical setting. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1471-2369 |
| Relation: |
https://doaj.org/toc/1471-2369 |
| DOI: |
10.1186/s12882-025-04009-2 |
| Access URL: |
https://doaj.org/article/6bff0bbff0f841fdb26a950da4513d4b |
| Accession Number: |
edsdoj.6bff0bbff0f841fdb26a950da4513d4b |
| Database: |
Directory of Open Access Journals |
