Cystinuria: An Overview of Challenges and Surgical Management

Frontiers in Surgery

article

Calum Stephen Clark¹  Kay Thomas¹  Matthew Bultitude¹ 

[1] Guy’s and St Thomas’ NHS Foundation Trust

关键词: endourology;    calculi;    ureteroscopy;    PCNL;    cystinuria;    ESWL (Extracorporeal Shock Wave Lithotripsy);    ECIRS;   

DOI  :  10.3389/fsurg.2022.812226

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Cystinuria is a genetically inherited condition and a rare cause of kidney stones. It affects approximately 1 in 7,000 of the global population, although wide geographical variances exist (1). It is often quoted that cystine stones make up 1–2% of all urinary stones in adults and 6–8% in pediatric populations (2). Cystinuria is typically thought of as an autosomal recessive disease but can be autosomal dominant with incomplete penetrance (1, 3). It is caused by a defective amino acid transporter in the proximal renal tubules and in the epithelial cell lining of the small intestine affecting transport of cystine and the dibasic amino acids ornithine, lysine, and arginine (COLA). Cystine is relatively insoluble (compared with the other three amino acids), and thus, cystine can precipitate out, causing renal stone formation. The responsible genetic defects are located in genes SLC3A1 (2p21) and SLC7A9 (19q12), which encode the cystine transporter (3). Historically, patients were classified by the levels of urinary cystine excretion, but a more recent genotype classification is now used with Type A (mutations in SLC3A1), Type B (mutations in SLC7A9), or Type AB (1 mutation in each gene) (4).

【 授权许可】

CC BY