ReviewPediatric nephrology (Berlin, Germany)2011
Cystinosis: practical tools for diagnosis and treatment.
Review in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 134 citations in OpenAlex.
- Review
- 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
- Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.Children (Basel, Switzerland) · 2025Review
- Article
- Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.JIMD reports · 2025Article
- Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives.Pediatric nephrology (Berlin, Germany) · 2024Review
- Intermediate cystinosis: a case report of 10-year treatment with cysteamine.BMC nephrology · 2024Article
- Article
- Fertility Management in Cystinosis: A Clinical Perspective.Kidney international reports · 2024Review
- The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience.Cureus · 2024Article
- CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.Advanced biomedical research · 2024Article
- Metabolomics for identifying pathways involved in vesicating agent lewisite-induced corneal injury.Experimental eye research · 2023Article
- ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.The Journal of clinical investigation · 2023Article
- The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.International journal of molecular sciences · 2023Article
- Cystinosis: Status of research and treatment in India and the world.Journal of biosciences · 2023Article
- A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis.Orphanet journal of rare diseases · 2022Article
- Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.Clinical kidney journal · 2022Review
- Crystalline structures of L-cysteine and L-cystine: a combined theoretical and experimental characterization.Amino acids · 2022Article
- Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis.
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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.