Perfumo F, Basile G, Ginevri F, Gusmano R
Minerva Med. 1979 Oct 13;70(44):3065-74.
Increased urinary excretion of free amino acids is a sign which requires determination of the underlying cause. Physiological aspects of tubular transport with emphasis on the role played by transport proteins or carriers are briefly discussed. Subsequently we present a resumptive classification. In prerenal hyperaminoaciduria the urinary excretion of amino acids just reflects the error in amino acid metabolism. Depending on tubular reabsorption of the amino acid involved in the metabolic error three types can be distinguished: the overflow, the competitive and the non-threshold hyperaminoacidurias. Renal hyperaminoaciduria can either be specific for individual or group-related amino acids, or generalized involving all amino acids. With the exception of classical cystinuria the various hyperaminoacidurias have more theoretical than clinical importance. Generalized hyperaminoaciduria is always a symptom of severe tubular disturbance which can be produced by various metabolic diseases, intoxications or deficiency states. Finally we present our experience in the treatment of cystinuria with mercaptopropionyl-glycine.
游离氨基酸尿排泄增加是一个需要确定潜在病因的体征。本文简要讨论了肾小管转运的生理方面，重点是转运蛋白或载体所起的作用。随后我们给出了一个总结性分类。在肾前性高氨基酸尿症中，氨基酸的尿排泄仅仅反映了氨基酸代谢的异常。根据参与代谢异常的氨基酸的肾小管重吸收情况，可以区分出三种类型：溢出性、竞争性和非阈值性高氨基酸尿症。肾性高氨基酸尿症可以是特定于个别或与组相关的氨基酸，也可以是全身性的，涉及所有氨基酸。除了典型的胱氨酸尿症外，各种高氨基酸尿症的理论意义大于临床意义。全身性高氨基酸尿症总是严重肾小管紊乱的症状，可由各种代谢疾病、中毒或缺乏状态引起。最后，我们介绍了用巯基丙酰甘氨酸治疗胱氨酸尿症的经验。
