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Cystinuria: An Overview of Diagnosis and Medical Management.

ABSTRACT: Cystinuria is a genetic disorder that causes recurrent nephrolithiasis. It is the most common type of monogenic stone disease accounting for 6%-8% of pediatric nephrolithiasis. Due to recurrent episodes of nephrolithiasis, it is associated with a very high prevalence of chronic kidney disease. Life-long medical treatment to reduce stone formation is critical in preventing chronic kidney disease and renal failure in cystinuria. In this article, we provide an overview of cystinuria with a special emphasis on medical treatment options including new agents such as alpha-lipoic acid.

SUBMITTER: Sadiq S

PROVIDER: S-EPMC9317473 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Cystinuria: An Overview of Diagnosis and Medical Management.

Sadiq Sanober S Cil Onur O

Turkish archives of pediatrics 20220701 4

Cystinuria is a genetic disorder that causes recurrent nephrolithiasis. It is the most common type of monogenic stone disease accounting for 6%-8% of pediatric nephrolithiasis. Due to recurrent episodes of nephrolithiasis, it is associated with a very high prevalence of chronic kidney disease. Life-long medical treatment to reduce stone formation is critical in preventing chronic kidney disease and renal failure in cystinuria. In this article, we provide an overview of cystinuria with a special ...[more]

PMID: 35822468

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