ReviewPediatric nephrology (Berlin, Germany)2019
Effects of long-term cysteamine treatment in patients with cystinosis.
Review in Pediatric nephrology (Berlin, Germany), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 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
43 citing papers in PubMed, 76 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
- Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.Kidney international reports · 2026Review
- Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India.Childhood kidney diseases · 2026Article
- Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care.Kidney international reports · 2025Article
- Proteome-Wide Mapping of Artesunate Targets Reveals Enrichment of the Ubiquitin-Proteasome System.Drug design, development and therapy · 2025Article
- Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.Orphanet journal of rare diseases · 2024Observational
- Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Intermediate cystinosis: a case report of 10-year treatment with cysteamine.BMC nephrology · 2024Article
- Adherence to Cysteamine Therapy Among Patients Diagnosed with Cystinosis in Saudi Arabia: A Prospective Cohort Study.Pharmacy (Basel, Switzerland) · 2024Article
- Extrarenal complications of cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Disulfidptosis decoded: a journey through cell death mysteries, regulatory networks, disease paradigms and future directions.Biomarker research · 2024Review
- Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.Pediatric nephrology (Berlin, Germany) · 2024Article
- Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice.Clinical kidney journal · 2024Article
- Successful treatment of solar lentigines by topical application of stabilized cysteamine: A vehicle-controlled, double-blind randomized study.Health science reports · 2024Article
- Patient journey in cystinosis: focus on non-adherence and disease management.Drugs in context · 2024Article
- Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.Frontiers in genetics · 2024Article
- Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).Orphanet journal of rare diseases · 2023Article
- Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. Patients with infantile nephropathic cystinosis, the most common and most severe clinical form of cystinosis, commonly present with renal Fanconi syndrome by 6-12 months of age, and without specific treatment, almost all will develop end-stage renal disease (ESRD) by 10-12 years of age. Early corneal cystine crystal deposition is a hallmark of the disease. Cystinosis also presents with gastrointestinal symptoms (e.g., vomiting, decreased appetite, and feeding difficulties) and severe growth retardation and may affect several other organs over time, including the eye, thyroid gland, gonads, pancreas, muscles, bone marrow, liver, nervous system, lungs, and bones. Cystine-depleting therapy with cysteamine orally is the only specific targeted therapy available for managing cystinosis and needs to be combined with cysteamine eye drops for corneal disease involvement. In patients with early treatment initiation and good compliance to therapy, long-term cysteamine treatment delays progression to ESRD, significantly improves growth, decreases the frequency and severity of extrarenal complications, and is associated with extended life expectancy. Therefore, early diagnosis of cystinosis and adequate life-long treatment with cysteamine are essential for preventing end-organ damage and improving the overall prognosis in these patients.
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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.