Pabico R C, Gruebel B J, McKenna B A, Griggs R C, Hollander J, Nusbacher J, Panner B J
Am J Med. 1981 May;70(5):1136-43. doi: 10.1016/0002-9343(81)90889-5.
Renal hemodynamic and tubular functions were measured in a patient with Refsum's disease before and after 12 weeks of twice-weekly plasmaphereses. Percutaneous renal biopsy was performed before initiation of plasmapheresis. These studies were performed to (1) define the nature of the renal lesions and the effects of phytanic acid accumulation on renal functions, and (2) assess the effects of lowering the plasma phytanic acid level on renal functions. The patient, a 39 year old woman, had lipiduria, glycosuria, cylindruria, minimal proteinuria and mild azotemia initially. Renal lesions consist of extensive vacuolization and mitochondrial changes of the tubular epithelial cells, vacuolization of the visceral epithelial cells of the glomeruli, and slight to moderate mesangial sclerosis. The impaired renal hemodynamic function and various tubular functions improved following plasmaphereses associated with reduction of plasma phytanic acid. Over-all clinical improvement was also evident.
在一名患有Refsum病的患者中，每周进行两次血浆置换，持续12周，在这之前和之后分别测量了其肾脏血流动力学和肾小管功能。在开始血浆置换之前进行了经皮肾活检。进行这些研究的目的是：（1）确定肾脏病变的性质以及植烷酸积累对肾功能的影响；（2）评估降低血浆植烷酸水平对肾功能的影响。该患者为一名39岁女性，最初有脂尿、糖尿、管型尿、微量蛋白尿和轻度氮质血症。肾脏病变包括肾小管上皮细胞广泛空泡化和线粒体改变、肾小球脏层上皮细胞空泡化以及轻度至中度系膜硬化。与血浆植烷酸减少相关的血浆置换后，受损的肾脏血流动力学功能和各种肾小管功能得到改善。整体临床改善也很明显。
