Richardson R M, Little J A, Patten R L, Goldstein M B, Halperin M L
Metabolism. 1979 Nov;28(11):1133-8. doi: 10.1016/0026-0495(79)90152-5.
An 18-yr-old man with a classical history of hereditary fructose intolerance (HFI) developed typical biochemical changes following an oral fructose load: fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis. Hypokalemia (3.1 meq/liter) was also noted. Three aspects of this case expand the published literature on this syndrome: (1) Metabolic acidosis was found to be due to both lactic acidosis and proximal renal tubular acidosis (RTA). We could quantitate the relative contribution of each, and found that urinary bicarbonate loss due to proximal RTA accounted for less than 10% of the fall in serum bicarbonate. The major cause of the metabolic acidosis was lactic acidosis. (2) Hypokalemia was found to be due to movement of potassium out of the extracellular space rather than to urinary loss. Potassium may have entered cells with phosphate or may have been sequestered in the gastrointestinal tract. (3) The coexistence of proximal RTA and acidemia made it possible to study the effect of acidemia on the urine-blood partial pressure of carbon dioxide (PCO2) gradient in alkaline urine (U-B PCO2). The U-B PCO2 measured during acidemia was much higher at the same urine bicarbonate concentration than in normal controls during alkalemia, providing evidence in humans that acidemia stimulates distal nephron hydrogen-ion secretion.
一名18岁男性，有典型的遗传性果糖不耐受（HFI）病史，口服果糖负荷后出现典型的生化变化：果糖血症、低血糖、低磷血症、高尿酸血症和代谢性酸中毒。还发现有低钾血症（3.1毫当量/升）。该病例的三个方面扩展了关于此综合征的已发表文献：（1）发现代谢性酸中毒是由乳酸酸中毒和近端肾小管酸中毒（RTA）共同引起的。我们能够量化每种情况的相对贡献，发现近端RTA导致的尿碳酸氢盐丢失占血清碳酸氢盐下降的比例不到10%。代谢性酸中毒的主要原因是乳酸酸中毒。（2）发现低钾血症是由于钾从细胞外空间移出，而不是由于尿钾丢失。钾可能与磷酸盐一起进入细胞，或者可能被隔离在胃肠道中。（3）近端RTA和酸血症的共存使得研究酸血症对碱性尿液中尿 - 血二氧化碳分压（PCO2）梯度（U - B PCO2）的影响成为可能。在酸血症期间测量的U - B PCO2，在相同尿碳酸氢盐浓度下比碱血症期间的正常对照组高得多，这为酸血症刺激远端肾单位氢离子分泌提供了人体证据。
