RT Journal Article
T1 Non-alcoholic fatty liver in hereditary fructose intolerance.
A1 Aldámiz-Echevarría, Luis
A1 de Las Heras, Javier
A1 Couce, María Luz
A1 Alcalde, Carlos
A1 Vitoria, Isidro
A1 Bueno, María
A1 Blasco-Alonso, Javier
A1 Concepción García, María
A1 Ruiz, Mónica
A1 Suárez, Rafael
A1 Andrade, Fernando
A1 Villate, Olatz
K1 ALDOB gene
K1 Hereditary fructose intolerance
K1 Mutation
K1 Non-alcoholic fatty liver disease
AB Non-alcoholic fatty liver disease (NAFLD) is characterized by fat accumulation affecting >5% of the liver volume that is not explained by alcohol abuse. It is known that fructose gives rise to NAFLD and it has been recently described that the ingestion of fructose in low amounts in aldolase B deficient mice is associated with the development of fatty liver. Therefore, it is reasonable that patients with HFI (Hereditary Fructose Intolerance) present fatty liver at diagnosis, but its prevalence in patients treated and with adequate follow-up is not well documented in the literature. The aim of this study is to analyze the association between HFI and NAFLD in treated patients. A cross-sectional observational study was conducted. The population comprised 16 genetically diagnosed HFI patients aged from 3 years to 48 and in dietary treatment of fructose, sorbitol and sacarose exclusion at least for two years. Blood samples were obtained for analytical studies and anthropometric measurements of each patient were performed. Patients presented a Body Mass Index (BMI) of 17.9 ± 2.9 kg/m2. The HOMA index and Quick index were in normal range for our population. The S-adenosyl-methionine (SAM)/S-adenosyl-l-homocysteine (SAH) ratio was increased in the patients in whom this analysis was performed. By imaging techniques it was observed that 9 of the 16 patients presented fatty liver (7 by hepatic MRI). Of these 9 patients, only 3 presented hepatomegaly. 7 of 9 patients affected by the c.448G > C mutation had fatty infiltration, of which three of them presented in addition hepatomegaly. There is a high prevalence of fatty liver in HFI patients and it is not related to obesity and insulin resistance. The diagnosis of fatty liver in HFI patients and, above all, the identification of new therapeutic approaches, can positively impact the quality of life of these patients.
YR 2019
FD 2019-02-15
LK http://hdl.handle.net/10668/13659
UL http://hdl.handle.net/10668/13659
LA en
DS RISalud
RD Apr 8, 2025