Asper R, Schmucki O
Urol Int. 1982;37(2):91-109. doi: 10.1159/000280803.
At the beginning of the four chapters on phenomena, analysis, pathophysiology and therapy of cystinuria the essentials of the published literature are summarized. The frequency of cystinuria is in the order of 1:10,000. Besides the cystine lithiasis occurring in nine tenths of all cystinuria patients neurological diseases may also be observed. All commonly applied methods to analyze cystine detect the sum of cystine and cysteine. Cystinuria is characterized by a higher cystine excretion, up to the 100-fold of the normal. Also the concentrations of lysine, arginine and ornithine in the urine of cystinuria patients are elevated, caused by intestinal and renal transport defects. Inevitable damage of renal parenchyma by multiple operations can drastically be reduced by the therapy with D-penicillamine or alpha-mercaptopropionylglycine. The disadvantages of that formation of soluble asymmetric disulfides are the side effects, such as nausea, gastric difficulties and dermatosis, occurring in up to 50% of the patients. Using the especially developed method with HPLC separation and electrochemical detector with a mercury electrode, cystine and cysteine are analyzed simultaneously. In the urine of healthy persons the molar concentration of cysteine is in the same order as cystine. But in cystinuria the cysteine concentration in urine is about a thousand times less than that of cystine. These results are evidence that a shifted redox-equilibrium of cystine-cysteine is also typical of cystinuria. The molar cysteine percentage of cysteine in healthy persons is increased from 30 to 50% by oral ascorbic acid administration. Therefore a vitamin C therapy for cystinuria is developed. 31 cystinuria patients who receive 5 g of vitamin C a day show a decrease in the cystine concentration of about 40%. Up to now, no side effects have been observed. The most obvious sign of the positive effect of the proposed vitamin C therapy for cystinuria is the missing cystine sediment in fresh urine.
在关于胱氨酸尿症的现象、分析、病理生理学和治疗的四章开头，总结了已发表文献的要点。胱氨酸尿症的发病率约为1:10000。除了十分之九的胱氨酸尿症患者会出现胱氨酸结石外，还可能观察到神经系统疾病。所有常用的分析胱氨酸的方法都会检测胱氨酸和半胱氨酸的总量。胱氨酸尿症的特征是胱氨酸排泄量增加，可达正常水平的100倍。由于肠道和肾脏转运缺陷，胱氨酸尿症患者尿液中赖氨酸、精氨酸和鸟氨酸的浓度也会升高。通过D-青霉胺或α-巯基丙酰甘氨酸治疗，可以大幅减少多次手术对肾实质造成的不可避免的损害。形成可溶性不对称二硫化物的缺点是副作用，如恶心、胃部不适和皮肤病，高达50%的患者会出现这些副作用。使用特别开发的高效液相色谱分离和汞电极电化学检测器的方法，可以同时分析胱氨酸和半胱氨酸。在健康人的尿液中，半胱氨酸的摩尔浓度与胱氨酸的摩尔浓度相当。但在胱氨酸尿症患者中，尿液中的半胱氨酸浓度比胱氨酸浓度低约一千倍。这些结果证明，胱氨酸-半胱氨酸氧化还原平衡的改变也是胱氨酸尿症的典型特征。通过口服维生素C，健康人尿液中半胱氨酸的摩尔百分比从30%增加到50%。因此，开发了一种针对胱氨酸尿症的维生素C疗法。31名每天服用5克维生素C的胱氨酸尿症患者的胱氨酸浓度降低了约40%。到目前为止，尚未观察到副作用。所提出的针对胱氨酸尿症的维生素C疗法产生积极效果的最明显迹象是新鲜尿液中没有胱氨酸沉淀。
