Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Nutrients

Gabriella Esposito¹  Severo Pagliardini²  Simona Fecarotta³  Giancarlo Parenti³  Fabiola Di Dato³  Simona Spadarella³  Claudia Zuppaldi³  Raffaele Iorio³  MariaImmacolata Spagnuolo³  MariaGiovanna Puoti⁴  MariaGrazia Caprio⁵  Gianfranco Vallone⁶ 

[1] Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy;Department of Pediatrics and Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy;Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy;Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond St., Holborn, London WC1N 3JH, UK;Institute of Biostructure and Bioimaging National Research Council, 80145 Naples, Italy;Pediatric Radiology, Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy;

关键词: hereditary fructose intolerance;    fructose;    sucrose;    sorbitol;    sialotransferrin profile;    aldolase b;    liver steatosis;   

DOI  :  10.3390/nu11102397

来源: DOAJ

【 摘 要 】

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients’ clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R² 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R² 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

【 授权许可】

Unknown