Mårtensson J, Denneberg T, Lindell A, Textorius O
Department of Clinical Chemistry, University Hospital, Linköping, Sweden.
Kidney Int. 1990 Jan;37(1):143-9. doi: 10.1038/ki.1990.20.
Sulfur amino acid metabolism was studied in 26 homozygotic cystinuric patients, some of whom received D-penicillamine, 2-mercaptopropionylglycine or N-acetylcysteine treatments in order to evaluate signs of cyst(e)ine deficiency. Decreased leukocyte glutathione and taurine levels, plasma cyst(e)ine and taurine concentrations and urinary inorganic sulfate, taurine, mercaptolactate and thiosulfate outputs were found in cystinuric patients, probably reflecting intracellular cyst(e)ine deficiency. An increased mercaptoacetate-cysteine mixed disulfide output was found, probably as result of a poor tubular reabsorption of this compound, as well as for cystine. Normal retinal function was recorded in all patients. During drug treatments, the excretion of most of the sulfur compounds in cystinurics was as those found in controls, probably reflecting an increased mobilization of cysteine. N-acetylcysteine treatment increased the excretion of cyst(e)ine and can thus not be recommended as stone preventive therapy in cystinuria.
对26名纯合子胱氨酸尿症患者的硫氨基酸代谢进行了研究，其中一些患者接受了D-青霉胺、2-巯基丙酰甘氨酸或N-乙酰半胱氨酸治疗，以评估胱（半胱）氨酸缺乏的迹象。胱氨酸尿症患者的白细胞谷胱甘肽和牛磺酸水平、血浆胱（半胱）氨酸和牛磺酸浓度以及尿无机硫酸盐、牛磺酸、巯基乳酸和硫代硫酸盐排出量均降低，这可能反映了细胞内胱（半胱）氨酸缺乏。发现巯基乙酸-半胱氨酸混合二硫化物排出量增加，这可能是由于该化合物以及胱氨酸的肾小管重吸收不良所致。所有患者的视网膜功能均正常。在药物治疗期间，胱氨酸尿症患者大多数硫化合物的排泄情况与对照组相同，这可能反映了半胱氨酸动员增加。N-乙酰半胱氨酸治疗增加了胱（半胱）氨酸的排泄，因此不推荐作为胱氨酸尿症的结石预防疗法。
