Cystinuria.

S. Ezell
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Abstract

An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.
胱氨酸尿。
由SLC3A1和SLC7A9基因突变引起的常染色体隐性遗传代谢疾病。其特点是肾近端小管对胱氨酸的再吸收不足。它会在肾脏、输尿管和膀胱中形成结石。
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