Callís L, Castelló E, Vilaplana E, Vila A
Bol Med Hosp Infant Mex. 1977 Sep-Oct;34(5):1001-14.
Cystinuria is a disease characterized by the excessive elimination of cystine and of dibasic amino acids (lysine, arginine, and ornithine) through urine of homozygotes. This study included 6 children complaining of abdominal pain with or without hematuria. The existence of renal radio-opaque lithiasis was confirmed in 5 of them and in the sixth, it was vesical. The clinical and analytic data were practically normal with the exception of the qualitative test of the amino acid urinary excretion that showed increase in urinary excretion of cystine. Likewise, percentages of tubular reabsorption were pathological in all the patients showing values between 35.4% and 74%. The diagnosis of systini-lysinuric lithiasis was established through amino acid excretion study in the six patients which was below normal; it fluctuated between 36% and 74%. Lysine, together with cystine, was the most frequently affected.
胱氨酸尿症是一种疾病，其特征是纯合子通过尿液过度排出胱氨酸和二碱基氨基酸（赖氨酸、精氨酸和鸟氨酸）。本研究纳入了6名主诉腹痛伴或不伴血尿的儿童。其中5人经证实存在肾脏不透射线结石，第6人有膀胱结石。除了氨基酸尿排泄的定性检测显示胱氨酸尿排泄增加外，临床和分析数据基本正常。同样，所有患者的肾小管重吸收百分比均呈病理性，数值在35.4%至74%之间。通过对6名患者进行氨基酸排泄研究确诊为胱氨酸-赖氨酸尿性结石，该研究结果低于正常水平；波动范围在36%至74%之间。赖氨酸与胱氨酸一样，是最常受影响的。
