胱氨酸尿。

American practitioner and digest of treatment Pub Date : 2020-02-10 DOI:10.32388/t6zheh

S. Ezell

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摘要

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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Cystinuria.

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.

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