Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet. The present study aimed to examine the long-term consequences of HFI on other aldolase-B-expressing organs, i.e. the kidney and vascular endothelium.

Methods: Fifteen adult HFI patients were compared to healthy control individuals matched for age, sex and body mass index. Aortic stiffness was assessed by carotid-femoral pulse wave velocity (cf-PWV) and endothelial function by peripheral arterial tonometry, skin laser doppler flowmetry and the endothelial function biomarkers soluble E-selectin [sE-selectin] and von Willebrand factor. Serum creatinine and cystatin C were measured to estimate the glomerular filtration rate (eGFR). Urinary glucose and amino acid excretion and the ratio of tubular maximum reabsorption of phosphate to GFR (TmP/GFR) were determined as measures of proximal tubular function. Results: Median systolic blood pressure was significantly higher in HFI patients (127 versus 122 mmHg, p = .045). Pulse pressure and cf-PWV did not differ between the groups (p = .37 and p = .49, respectively). Of all endothelial function markers, only sE-selectin was significantly higher in HFI patients (p = .004). eGFR was significantly higher in HFI patients than healthy controls (119 versus 104 ml/min/1.73m², p = .001, respectively). All measurements of proximal tubular function did not differ significantly between the groups.

Conclusions: Adult HFI patients treated with a fructose-restricted diet are characterized by a higher sE-selectin level and slightly higher systolic blood pressure, which in time could contribute to a greater cardiovascular risk. The exact cause and, hence, clinical consequences of the higher eGFR in HFI patients, deserves further study.

目的：先前的研究表明，尽管饮食限制果糖，但遗传性果糖不耐症（HFI）患者的特征是肝内甘油三酸酯含量更高。本研究旨在检查HFI对其他表达醛缩酶B的器官（即肾脏和血管内皮）的长期影响。

方法：将15例成人HFI患者与年龄，性别和体重指数相匹配的健康对照组进行比较。通过颈动脉股脉波速度（cf-PWV）和通过外周动脉眼压计，皮肤激光多普勒血流仪以及内皮功能生物标志物可溶性E-选择素[sE-selectin]和von Willebrand因子的内皮功能评估主动脉僵硬度。测量血清肌酐和半胱氨酸蛋白酶抑制剂C以估计肾小球滤过率（eGFR）。确定尿葡萄糖和氨基酸排泄以及磷酸盐对GFR的肾小管最大重吸收率（TmP / GFR）作为近端肾小管功能的量度。结果：HFI患者的收缩压中位数显着较高（127 vs 122 mmHg，p = .045）。两组之间的脉压和cf-PWV无差异（分别为p  = 0.37和p  = 0.49）。在所有内皮功能标记物中，HFI患者中只有sE-选择素显着较高（p  = .004）。HFI患者的eGFR显着高于健康对照组（分别为119和104 ml / min / 1.73m ²，p  = .001）。各组之间所有近端肾小管功能的测量均无显着差异。

结论：限制果糖饮食的成年HFI患者具有较高的sE-选择素水平和稍高的收缩压，这可能会导致更高的心血管风险。HFI患者中较高的eGFR的确切原因及临床后果值得进一步研究。