ReviewPediatric nephrology (Berlin, Germany)2021
Nephropathic cystinosis: an update on genetic conditioning.
Review in Pediatric nephrology (Berlin, Germany), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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
14 citing papers in PubMed, 27 citations in OpenAlex.
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- Awareness, perceptions, and practices regarding transition to adult care for nephropathic cystinosis in Türkiye: a nationwide cross-sectional survey of pediatric nephrologists.Orphanet journal of rare diseases · 2026Article
- Genetic Screening of Patients With Inherited Fanconi Syndrome.Kidney international reports · 2026Article
- Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India.Childhood kidney diseases · 2026Article
- Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder.Pharmaceutics · 2024Article
- Extrarenal complications of cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Failure to Thrive With Severe Hypokalemia Yields Cystinosis Diagnosis in a 19-Month-Old Female Child: A Case Report.Cureus · 2024Article
- Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.Pediatric nephrology (Berlin, Germany) · 2024Article
- CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.Advanced biomedical research · 2024Article
- Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.Human molecular genetics · 2023Article
- Cysteamine exerts in vitro antiviral activity against the SARS-CoV-2 Delta and Omicron variants.Cell death discovery · 2022Article
- Review
- A Bartter syndrome patient presenting with severe growth retardation: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- More than tubular dysfunction: cystinosis and kidney outcomes.Journal of nephrology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. The CTNS gene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm. In cases of cystinosin deficiency, free cystine accumulates in lysosomes and forms toxic crystals that lead to tissue and organ damage. Since CTNS gene mutations were first described, many variations have been identified that vary according to geographic region, although the phenotype remains the same. Cystinosis is a hereditary disease that can be treated with the cystine-depleting agent cysteamine. Cysteamine slows organ deterioration, but cannot treat renal Fanconi syndrome or prevent eventual kidney failure; therefore, novel treatment modalities for cystinosis are of great interest to researchers. The present review aims to highlight the geographic differences in cystinosis-specifically in terms of its genetic aspects, clinical features, management, and long-term complications.
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.