ReviewNature reviews. Nephrology2010
Pathophysiology and treatment of cystinuria.
Review in Nature reviews. Nephrology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02910531 (The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation), which is not on this map. Cited by 95 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Effect of Lipoic Acid Natural Supplement on Cystine Stone Formation
Who cites it
95 citing papers in PubMed, 3 syntheses or guidelines pooled it, 223 citations in OpenAlex.
- Pharmacological interventions for the management of cystinuria: a systematic review.Journal of nephrology · 2024Pooled it
- Systematic Overview of Solid Particles and Their Host Responses.Frontiers in immunology · 2018Pooled it
- Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.BMC genomics · 2017Pooled it
- Trial
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Selenocystine-based fluorescence assay combined with structural prediction for functional analysis of cystine transporter variants in cystinuria.Journal of Zhejiang University. Science. B · 2026Article
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- Glutathione Synthesis via the Cystine/Glutamate Transporter Promotes the Formation of Tertiary Lymphoid Structures in the Kidney.Journal of the American Society of Nephrology : JASN · 2026Article
- Cystinuria in an Australian Cattle Dog Family-A Seemingly Androgen-Associated Autosomal Dominant Trait.Veterinary sciences · 2026Article
- Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.Molecular biology reports · 2025Article
- Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.Scientific reports · 2025Article
- Partial correction of cystinuria type A in mice via kidney-targeted transposon delivery.Molecular therapy. Nucleic acids · 2025Article
- A Case of Cystinuria With Compound Heterozygous Mutations Both inElectrolyte & blood pressure : E & BP · 2025Article
- Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.Balkan journal of medical genetics : BJMG · 2025Article
- Disruptions in Tiopronin therapy: impacts on clinical outcomes of pediatric cystinuria patients during the COVID-19 pandemic.Urolithiasis · 2025Article
- Enhancing Renal Stone Management: Tip-Flexible Ureteral Access Sheath in Cystine Stone Surgery.The American journal of case reports · 2025Article
- 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
- Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.BMC medical genomics · 2023Article
- Cystinuria without cystine? Correct assessment to avoid misdiagnosis: lessons for the clinical nephrologist.Journal of nephrology · 2023Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
Cystinuria is a primary inherited aminoaciduria caused by mutations in the genes that encode the two subunits (neutral and basic amino acid transport protein rBAT and b(0,+)-type amino acid transporter 1) of the amino acid transport system b(0,+). This autosomal recessive disorder (in which few cases show dominant inheritance) causes a failure in the reabsorption of filtered cystine and dibasic amino acids in the proximal tubule. The clinical symptoms of this disease are caused by the loss of poorly soluble cystine, which precipitates to form stones. Although rare, the prevalence of cystinuria is sufficiently high that the disease results in a substantial contribution to pediatric renal lithiasis. A thorough understanding of cystine transport processes over the past 15 years and the genetic abnormalities responsible for the disease has led to a new classification of cystinuria and recognition that some cases result from an autosomal dominant etiology with incomplete penetrance. This Review examines the molecular and mechanistic effects of some of the mutations that cause cystinuria based on our current understanding of the structural and cellular biology of system b(0,+). This Review also describes the current treatments to prevent recurrent cystine lithiasis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.