ReviewNature reviews. Nephrology2017
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
Review in Nature reviews. Nephrology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers.
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Who cites it
105 citing papers in PubMed, 194 citations in OpenAlex.
- Birth characteristics and growth outcome in children with nephropathic cystinosis compared with other chronic kidney disease entities prior to kidney replacement therapy.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- Lysosome-derived methylated arginine is a signalling metabolite controlling the lipidome.Nature cell biology · 2026Article
- Renal Tubular Epithelial Cells as Central Hubs of Kidney Disease.Diagnostics (Basel, Switzerland) · 2026Review
- SGLT2 inhibitors for kidney protection in children: expanding horizons beyond endocrinology.Pediatric nephrology (Berlin, Germany) · 2026Review
- Cystinosin regulates NaEMBO reports · 2026Article
- Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway.bioRxiv : the preprint server for biology · 2026Article
- A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models.International journal of molecular sciences · 2026Article
- Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India.Childhood kidney diseases · 2026Article
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- Serum N-glycosylation is altered in Nephropathic Cystinosis.Glycobiology · 2025Article
- Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy.Molecular genetics and metabolism reports · 2025Article
- Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.BMC genomic data · 2025Article
- TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.Journal of the American Society of Nephrology : JASN · 2025Article
- Article
- Managing Ifosfamide-Induced Arginine Vasopressin Resistance: Diagnostic and Treatment Strategies.Cureus · 2025Article
- Cystinosin is involved in NabioRxiv : the preprint server for biology · 2025Article
- Genetics in Kidney Diseases.Advances in kidney disease and health · 2025Review
- Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.JIMD reports · 2025Article
- Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2024Article
45 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, a renal Fanconi syndrome is often the first manifestation of cystinosis, usually presenting within the first year of life and characterized by the early and severe dysfunction of proximal tubule cells, highlighting the unique vulnerability of this cell type. The current therapy for cystinosis, cysteamine, facilitates lysosomal cystine clearance and greatly delays progression to kidney failure but is unable to correct the Fanconi syndrome. This Review summarizes decades of studies that have fostered a better understanding of the pathogenesis of the renal Fanconi syndrome associated with cystinosis. These studies have unraveled some of the early molecular changes that occur before the onset of tubular atrophy and identified a role for cystinosin beyond cystine transport, in endolysosomal trafficking and proteolysis, lysosomal clearance, autophagy and the regulation of energy balance. These studies have also led to the identification of new potential therapeutic targets and here, we outline the potential role of stem cell therapy for cystinosis and provide insights into the mechanism of haematopoietic stem cell-mediated kidney protection.
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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.