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供者遗传性胱氨酸尿症致肾移植受者胱氨酸结石

Donor-transmitted cystinuria in a renal transplant recipient.

机构信息

Division of Nephrology, Advent Health, 305 Memorial Medical Parkway, Ste # 507, Daytona Beach, FL, 32117, USA.

Division of Nephrology, University of Mississippi Medical Center, Jackson, MS, USA.

出版信息

J Nephrol. 2024 Jul;37(6):1715-1717. doi: 10.1007/s40620-023-01877-5. Epub 2024 Mar 21.

Abstract

Cystinuria is an autosomal recessive disorder associated with defective proximal tubular reabsorption of divalent amino acids. It leads to increased cystine, ornithine, lysine, and arginine excretion in the urine. Cystine is insoluble in physiological pH, and cystinuria leads to crystalluria and nephrolithiasis. We present a case of acquired cystinuria in a renal transplant recipient, that is, to the best of our knowledge, the first case of acquired cystinuria ever documented in the literature.

摘要

胱氨酸尿症是一种常染色体隐性遗传疾病,与二价氨基酸的近端肾小管重吸收缺陷有关。它导致胱氨酸、鸟氨酸、赖氨酸和精氨酸在尿液中的排泄增加。胱氨酸在生理 pH 值下不溶解,胱氨酸尿症导致结晶尿和肾结石。我们报告了一例肾移植受者获得性胱氨酸尿症,据我们所知,这是文献中首例获得性胱氨酸尿症病例。

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