Morris R C
J Clin Invest. 1968 Jun;47(6):1389-98. doi: 10.1172/JCI105830.
In three unrelated patients with hereditary fructose intolerance (HFI), but in none of five normal subjects, the experimental administration of fructose invariably induced a reversible dysfunction of the renal tubule with biochemical and physiological characteristics of renal tubular acidosis. During a state of ammonium chloride-induced acidosis, (a) urinary pH was greater than six and the rate of excretion of net acid (titratable acid plus ammonium minus bicarbonate) was inappropriately low, (b) the glomerular filtration rate remained unchanged or decreased modestly, and (c) urinary excretion of titratable acid increased briskly with diuresis of infused phosphate, although urinary pH changed little. The tubular dysfunction, which also includes impaired tubular reabsorption of alpha amino nitrogen and phosphate, persisted throughout administration of fructose and disappeared afterward. The tubular dysfunction was not causally dependent on hypoglucosemia, ammonium chloride-induced acidosis or osmotic diuresis. Rather, it appeared causally related to the fructose-induced metabolic abnormality of patients with HFI. The causal enzymatic defect, the virtual absence of fructose-1-phosphate aldolase, occurs in the kidney as well as in the liver of patients with HFI.
在三名患有遗传性果糖不耐受症（HFI）的非亲缘关系患者中，但在五名正常受试者中均未出现这种情况，实验性给予果糖总是会引发肾小管的可逆性功能障碍，具有肾小管酸中毒的生化和生理特征。在氯化铵诱导的酸中毒状态下，（a）尿液pH值大于6，净酸排泄率（可滴定酸加铵减去碳酸氢盐）异常低，（b）肾小球滤过率保持不变或略有下降，并且（c）随着输注磷酸盐的利尿作用，可滴定酸的尿排泄量迅速增加，尽管尿液pH值变化不大。肾小管功能障碍还包括α-氨基氮和磷酸盐的肾小管重吸收受损，在果糖给药期间一直存在，之后消失。肾小管功能障碍并非因果依赖于低血糖、氯化铵诱导的酸中毒或渗透性利尿。相反，它似乎与HFI患者果糖诱导的代谢异常存在因果关系。因果酶缺陷，即几乎不存在果糖-1-磷酸醛缩酶，在HFI患者的肾脏和肝脏中均有发生。
