Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance
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DOI：
10.3390/nu11102397
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发表时间：
2019-10-01
期刊：
影响因子：
5.9
通讯作者：
Spagnuolo, Maria Immacolata
中科院分区：
文献类型：
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作者：
Di Dato, Fabiola;Spadarella, Simona;Spagnuolo, Maria Immacolata
背景：遗传性果糖不耐受(HFI)是一种罕见的由醛缩酶B酶缺乏引起的果糖代谢遗传性疾病。治疗包括不含果糖、山梨醇和蔗糖(FSS)的饮食。在一组受肾综合征出血热影响的年轻患者中，我们探索了长期每日果糖摄入量与肝脏损伤生物标志物之间的可能相关性。方法：对患者的临床资料和果糖日摄入量进行回顾性分析。分析果糖摄入量、血清丙氨酸氨基转移酶(ALT)水平、糖类缺乏转铁蛋白(CDT)百分比、肝脏超声、基因分型之间的关系。结果：48例患者平均随访10.3+/-5.6年，果糖摄入量为169+/-145.4 mg/d。18例ALT持续升高，9例CDT异常，45例有肝脏脂肪变性的征象。果糖摄入量与ALT水平或脂肪变性严重程度无关，而与双唾液转铁蛋白百分比(R-20.7，p<；0.0001)和四唾液转铁蛋白/双唾液转铁蛋白比率(R-200.5，p=0.0001)相关。P.A150P纯合子患者确诊时ALT值低于P.A175D变异纯合子患者(58+/-55IU/L vs.143+/-90IU/L，P=0.01)。结论：一组接受无FSS饮食的HFI患者表现为持续性轻度高氨酸氨基转移酶血症，与果糖摄入量无关。基因分型可能影响血清肝酶水平。CDT图谱是评估FSS摄入量的良好标记物。
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 (R-2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R-2 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.