Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the...
| Autores: | , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | español |
| OAI Identifier: | oai:ddd.uab.cat:303863 |
| Acceso en línea: | https://ddd.uab.cat/record/303863 https://dx.doi.org/urn:doi:10.1016/j.nefro.2022.12.001 |
| Access Level: | acceso abierto |
| Palabra clave: | Fabry Globotriaosilceramida Globotriaosylceramide Lionización Lionization α-Galactosidase A α-galactosidase A |
| Sumario: | Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the deposition of globotriaosylceramide throughout the body. Females have a variable phenotypic expression and a better prognosis than males. This is due to the X chromosome inactivation phenomenon. We present a clinical case of Fabry disease in a female with predominantly renal involvement and demonstrate how the X chromosome inactivation phenomenon is tissue dependent, showing preferential inactivation of the mutated allele at the renal level. |
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