Delineation of cystinuria in Saudi Arabia: A case series

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• 作者：Abdulrahman Obaid ; Marwan Nashabat ; Khalid Al Fakeeh…
• 关键词：Cystinuria ; Renal calculi ; SLC3A1 ; SLC7A9
• 刊名：BMC Nephrology
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：355KB
• 刊物主题：Nephrology; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2369
• 卷排序：18

文摘

BackgroundCystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, arginine, and lysine. Patients usually present with recurrent renal calculi and may develop renal impairment. Medical management includes high fluid intake and chelating agents. To the best of our knowledge, this is the first study describing cystinuria in Saudi Arabia.