ReviewPediatric nephrology (Berlin, Germany)2022
Cystinuria: an update on pathophysiology, genetics, and clinical management.
Review in Pediatric nephrology (Berlin, Germany), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- A holistic guide to effective prevention and treatment for kidney stones: a systematic review exploring anti-urolithiasis approaches.Naunyn-Schmiedeberg's archives of pharmacology · 2026Pooled it
- SLC3A1 Mitigates Ferroptosis and Promotes Enzalutamide Resistance in Prostate Cancer.Journal of biochemical and molecular toxicology · 2026Article
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- Cystine-Binding Medication Is Poorly Accessible for the Treatment of Cystinuria.Kidney & blood pressure research · 2026Article
- Cystinuria: Diagnosis, Medical and Surgical Management, and Emerging Therapies. A Narrative Review.Research and reports in urology · 2026Review
- Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.Kidney international reports · 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
- Cystinuria in children: diagnosis and treatment.World journal of urology · 2025Review
- An updated approach to the evaluation of the urinary sediment.Pediatric nephrology (Berlin, Germany) · 2025Review
- Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel.Urolithiasis · 2025Article
- Metabolomic Insights into Smoking-Induced Metabolic Dysfunctions: A Comprehensive Analysis of Lipid and Amino Acid Metabolomes.Metabolites · 2025Article
- Bone mineral density assessment in patients with cystinuria.Journal of nephrology · 2025Article
- Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists.Frontiers in medicine · 2025Review
- Cystinuria-Related Urinary Stone as the Cause of Repeated Urinary Tract Infections (UTIs) in a Child.Cureus · 2025Article
- A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.Nephrology (Carlton, Vic.) · 2024Review
- Structure-activity relationships and pharmacokinetic evaluation of L-cystine diamides as L-cystine crystallization inhibitors for cystinuria.Medicinal chemistry research : an international journal for rapid communications on design and mechanisms of action of biologically active agents · 2024Article
- 8-l-Cystinyl Bis(1,8-diazaspiro[4.5]decane) as an Orally Bioavailable l-Cystine Crystallization Inhibitor for Cystinuria.ACS medicinal chemistry letters · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic defect affects the reabsorption of cystine and three other amino acids (ornithine, lysine, and arginine) in the renal proximal tubule. Patients affected by this condition have elevated excretion of cystine in the urine, and because of this amino acid's low solubility at normal urine pH, patients tend to form cystine calculi. To date, two genes have been identified as disease-causative: SLC3A1 and SLC7A9, encoding for the two subunits of the heterodimeric transporter. The clinical features of this condition are solely related to nephrolithiasis. The diagnosis is usually made during infancy or adolescence, but cases of late diagnosis are common. The goal of therapy is to reduce excretion and increase the solubility of cystine, through both modifications of dietary habits and pharmacological treatment. However, therapeutic interventions are not always sufficient, and patients often have to undergo several surgical procedures during their lives to treat recurrent nephrolithiasis. The goal of this literature review is to synthesize the available evidence on diagnosis and management of patients affected by cystinuria in order to provide physicians with a practical tool that can be used in daily clinical practice. This review also aims to shed some light on new therapy directions with the aim of ameliorating kidney outcomes while improving adherence to treatment and quality of life of cystinuric patients.
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.