ArticleClinical journal of the American Society of Nephrology : CJASN2015
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Pharmacological interventions for the management of cystinuria: a systematic review.Journal of nephrology · 2024Pooled it
- Tiopronin safety in cystinuria: first real-world pharmacovigilance analysis using the FDA Adverse Event Reporting System (FAERS): an EAU YAU and Endourology sections review.Pediatric nephrology (Berlin, Germany) · 2026Article
- Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants - Who Is "The Culprit"?Kidney & blood pressure research · 2026Article
- Cystinuria Diagnosed at Age 67 Following a 49-Year Diagnostic Delay: A Reminder of Indolent Cystinuria in Adult Urolithiasis-A Case Report.Case reports in urology · 2026Article
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.Scientific reports · 2025Article
- A Case of Cystinuria With Compound Heterozygous Mutations Both inElectrolyte & blood pressure : E & BP · 2025Article
- Disruptions in Tiopronin therapy: impacts on clinical outcomes of pediatric cystinuria patients during the COVID-19 pandemic.Urolithiasis · 2025Article
- Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria.Genes & diseases · 2025Article
- Article
- Cystinuria in children: diagnosis and treatment.World journal of urology · 2025Review
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.Current research in physiology · 2025Review
- The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Bone mineral density assessment in patients with cystinuria.Journal of nephrology · 2025Article
- Cystine crystal nucleation and decay in the context of cystinuria pathogenesis and treatment.RSC advances · 2024Article
- Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report.Clinical case reports · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.BMC medical genomics · 2023Article
- Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.International journal of molecular sciences · 2023Article
- Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.Pediatric nephrology (Berlin, Germany) · 2023Article
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
BACKGROUND AND
objectivesCystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Prevalent patients were studied from 2012 to 2014 in the northeast and southwest of the United Kingdom. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 combining Sanger sequencing and multiplex ligation probe-dependent amplification was performed.
resultsIn total, 76 patients (42 men and 34 women) were studied. All subjects had proven cystine stones. Median age of presentation (first stone episode) was 24 years old, but 21% of patients presented after 40 years old. Patients had varied clinical courses, with 37% of patients having ≥10 stone episodes; 70% had evidence of CKD, and 9% had reached ESRD as a result of cystinuria and its complications. Patients with cystinuria received a variety of different therapies, with no obvious treatment consensus. Notably, 20% of patients had staghorn calculi, with associated impaired renal function in 80% of these patients. Genetic analysis revealed that biallelic mutations were present in either SLC3A1 (n=27) or SLC7A9 (n=20); 22 patients had only one mutated allele detected (SLC3A1 in five patients and SLC7A9 in 17 patients). In total, 37 different mutant variant alleles were identified, including 12 novel mutations; 22% of mutations were caused by large gene rearrangements. No genotype-phenotype association was detected in this cohort.
conclusionsPatients with cystinuria in the United Kingdom often present atypically with staghorn calculi at ≥40 years old and commonly develop significant renal impairment. There is no association of clinical course with genotype. Treatments directed toward reducing stone burden need to be rationalized and developed to optimize patient care.
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