Mulberry bodies in the urine sediment of a patient with chronic kidney disease
Fabry disease is a hereditary disease caused by a mutation in the α-galactosidase A (GLA) gene resulting in the accumulation of glycosphingolipids in different organs. Timely diagnosis is crucial for the early initiation of treatment to avoid organic dysfunction secondary to lipid accumulation. In v...
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Autores principales: | , , , |
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Formato: | article |
Lenguaje: | EN ES |
Publicado: |
De Gruyter
2020
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Materias: | |
Acceso en línea: | https://doaj.org/article/bf23a74304a24b82a4b824c7c583de10 |
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Sumario: | Fabry disease is a hereditary disease caused by a mutation in the α-galactosidase A (GLA) gene resulting in the accumulation of glycosphingolipids in different organs. Timely diagnosis is crucial for the early initiation of treatment to avoid organic dysfunction secondary to lipid accumulation. In view of the above, a number of studies have been performed to assess the role of mulberry bodies as a new diagnostic tool. In this study, we report a case demonstrating the utility of this test. |
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