【定义】胱氨酸尿是累及肾小管和消化道上皮细胞刷状缘的氨酸转运失常。临床病情属常染色体复合隐性遗传性状,而以尿中胱氨酸沉淀为其特征。胱氨酸是天然氨酸中溶解性最低的,结晶析出形成尿路结石,即可引起绞痛、梗阻和感染,终致肾功能减退。 [Definition] Cystine urine is involved in renal tubular and gastrointestinal epithelial brush border acidosis disorders. Clinical conditions are autosomal recessive recessive traits, while the urine cystine precipitation as its characteristics. Cystine is the lowest solubility in natural amino acids, the formation of urinary tract stones precipitated crystals that can cause colic, obstruction and infection, eventually leading to renal dysfunction.