ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2014
Nephropathic cystinosis: an international consensus document.
Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
100 citing papers in PubMed, 2 syntheses or guidelines pooled it, 9 citations in OpenAlex.
- Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.Orphanet journal of rare diseases · 2025Pooled it
- Adult complications of nephropathic cystinosis: a systematic review.Pediatric nephrology (Berlin, Germany) · 2021Pooled it
- Hematopoietic Stem-Cell Gene Therapy for Cystinosis.The New England journal of medicine · 2026Trial
- Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.Pediatric nephrology (Berlin, Germany) · 2018Trial
- A Phase 1 Pharmacokinetic Study of Cysteamine Bitartrate Delayed-Release Capsules Following Oral Administration with Orange Juice, Water, or Omeprazole in Cystinosis.Advances in therapy · 2018Trial
- A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR.Cell death and differentiation · 2016Trial
- Proteinuria in adolescence.Pediatric nephrology (Berlin, Germany) · 2026Review
- Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice.BMC nephrology · 2026Article
- Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.BMC genomic data · 2026Article
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- The Use of a Viscous Cysteamine Eyedrop in a Belgian Cohort: Early 3-Year Results.Ophthalmology and therapy · 2025Article
- Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.Children (Basel, Switzerland) · 2025Review
- Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists.Clinical and translational science · 2025Review
- Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients.The British journal of ophthalmology · 2025Article
- Lysosomal Ion Channels and Transporters: Recent Findings, Therapeutic Potential, and Technical Approaches.Bioelectricity · 2025Review
- Endocrine system disturbances in children with inherited metabolic diseases: a narrative review.Frontiers in endocrinology · 2025Review
- Genetics in Kidney Diseases.Advances in kidney disease and health · 2025Review
- Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2024Article
- Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study.Medicina (Kaunas, Lithuania) · 2024Observational
- Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
40 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
21 authors at 14 institutions in 9 countries.
Funding
Abstract
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.
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.