Eksmyr R, Fex G, Jagell S, Johansson B G, Ravnskov U, Samuelson G
Acta Paediatr Scand. 1976 Jul;65(4):521-5. doi: 10.1111/j.1651-2227.1976.tb04925.x.
Mental retardation in combination with proteinuria and a slight hyperlipoproteinemia was found in three brothers. The increased urinary protein excretion was dominated by albumin and the low molecular weight proteins retinol-binding protein (RBP) and beta2-microglobulin, indicating the presence of proximal tubular dysfunction. However, there was no glucosuria, phosphaturia or amino aciduria and the renal concentrating and acidification capacities were normal. A kidney biopsy in one of the patients revealed morphologic evidence of glomerular damage but a normal tubular structure. A mild hyper-beta-lipoproteinemia was found in the patients but not in their healthy siblings. The cause of this syndrome, hitherto not described, is unknown.
在三兄弟中发现智力发育迟缓合并蛋白尿和轻度高脂蛋白血症。尿蛋白排泄增加以白蛋白以及低分子量蛋白质视黄醇结合蛋白（RBP）和β2-微球蛋白为主，提示存在近端肾小管功能障碍。然而，无糖尿、磷尿或氨基酸尿，肾脏浓缩和酸化能力正常。其中一名患者的肾活检显示有肾小球损伤的形态学证据，但肾小管结构正常。患者存在轻度高β-脂蛋白血症，但其健康的兄弟姐妹中未发现。这种综合征的病因迄今尚未见报道，尚不清楚。
