Kondo T, Kuchiba K, Shimizu Y
J Lab Clin Med. 1979 Sep;94(3):421-8.
The underlying mechanism of abnormal urinary distribution of CP isomers in DJS is unknown. We administered ALA to DJS patients and carriers as well as to normal controls, and urinary and biliary porphyrins and plasma bilirubin were studied. In sharp contrast to the remarkable increase in urinary CP-III excretion in normal controls (2234 nmol/gm creatinine during the first 2 hr) after ALA, very small increase was observed in DJS patients (19 nmol). In DJS carriers the increase took intermediate values (1122 nmol). The increments in urinary CP-I were smallest in DJS patients, and the peak of its increase was delayed. These data are compatible with the hypothesis that a carrier-mediated mechanism in transporting CP-gen isomers I and III from the liver cells to the plasma may be anomalous in DJS hepatocytes and that the increased urinary CP-I characteristic of DJS may be the result of a disturbance in the uptake process of CP-gen I, derived mainly from the erythropoietic tissues, by DJS liver cells. Although the biliary percent of CP-I in controls decreased after ALA, it remained unchanged in DJS, suggesting the existence of a bile canalicular barrier against CP-gen-III in DJS. The elevated biliary porphyrins and plasma bilirubin after ALA in DJS patients favor an idea that there may be no major enzymatic derangements in the metabolic sequences from ALA to bilirubin. The increased excretion of PP in DJS bile after ALA remained to be explained.
DJS患者中CP异构体尿分布异常的潜在机制尚不清楚。我们对DJS患者、携带者以及正常对照者给予ALA,并研究了尿和胆汁中的卟啉以及血浆胆红素。与正常对照者在给予ALA后尿中CP-III排泄量显著增加(最初2小时内为2234 nmol/g肌酐)形成鲜明对比的是,DJS患者的增加量非常小(19 nmol)。DJS携带者的增加量处于中间值(1122 nmol)。DJS患者尿中CP-I的增加量最小,且其增加峰值延迟。这些数据与以下假设相符:在将CP基因异构体I和III从肝细胞转运至血浆的过程中,载体介导机制在DJS肝细胞中可能异常,且DJS患者尿中CP-I增加的特征可能是由于DJS肝细胞对主要来自造血组织的CP基因I摄取过程受到干扰所致。尽管正常对照者在给予ALA后胆汁中CP-I的百分比下降,但在DJS患者中保持不变,这表明DJS患者存在针对CP基因III的胆小管屏障。DJS患者在给予ALA后胆汁中卟啉和血浆胆红素升高,这支持了从ALA到胆红素的代谢序列中可能不存在主要酶紊乱的观点。DJS患者在给予ALA后胆汁中PP排泄增加的原因仍有待解释。