Non-alcoholic fatty liver in hereditary fructose intolerance
This multicenter cross-sectional study evaluates the prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with hereditary fructose intolerance (HFI) under adequate dietary treatment. Sixteen genetically confirmed patients were assessed through anthropometric measurements, biochemical...
| Autores: | , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2020 |
| País: | España |
| Institución: | Universidad Camilo José Cela (UCJC) |
| Repositorio: | Depósito Digital e-UCJC |
| OAI Identifier: | oai:repositorio.ucjc.edu:20.500.12020/1931 |
| Acceso en línea: | http://hdl.handle.net/20.500.12020/1931 https://doi.org/10.1016/j.clnu.2019.02.019 |
| Access Level: | acceso abierto |
| Palabra clave: | Ciencias Biomédicas Ciencias de la Naturaleza Non-alcoholic fatty liver disease Hereditary fructose intolerance ALDOB gene Fatty liver Metabolic disorders Genetic mutations 3205 Medicina Interna 3206 Ciencias de la Nutrición 3207 Patología 2409 Genética |
| Sumario: | This multicenter cross-sectional study evaluates the prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with hereditary fructose intolerance (HFI) under adequate dietary treatment. Sixteen genetically confirmed patients were assessed through anthropometric measurements, biochemical profiling, genetic analysis of ALDOB mutations, and imaging techniques including ultrasound and hepatic MRI. NAFLD was identified in 56% of patients, without association with obesity or insulin resistance. A significant correlation was observed between the c.448G>C (p.Ala150Pro) mutation and the presence of hepatic steatosis. These findings suggest that NAFLD may represent part of the phenotypic spectrum of treated HFI rather than being exclusively linked to poor metabolic control. The study contributes to improving long-term clinical monitoring strategies in rare metabolic disorders. |
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