ArticleWorld journal of nephrology2013
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
Article in World journal of nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- The Use of a Viscous Cysteamine Eyedrop in a Belgian Cohort: Early 3-Year Results.Ophthalmology and therapy · 2025Article
- Design of intrinsically disordered region binding proteins.Science (New York, N.Y.) · 2025Article
- Genetic Landscape of Nephropathic Cystinosis in Russian Children.Frontiers in genetics · 2022Article
- Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center's Experience.Diagnostics (Basel, Switzerland) · 2020Article
- A no-nonsense approach to hereditary kidney disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.Journal of the American Society of Nephrology : JASN · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- Ophthalmic Outcome in a Belgian Cohort of Cystinosis Patients Treated with a Compounded Preparation of Cysteamine Eye Drops: Retrospective Analysis.Ophthalmology and therapy · 2019Article
- Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.Frontiers in pediatrics · 2018Article
- Article
- Management dilemmas in pediatric nephrology: Cystinosis.Pediatric nephrology (Berlin, Germany) · 2015Article
- [Peculiarity of infantile cystinosis in Tunisian children].The Pan African medical journal · 2015Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
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Abstract
Cystinosis is an autosomal recessive lysosomal storage disease with an unclear enzymatic defect causing lysosomal cystine accumulation with no corresponding elevation of plasma cystine levels leading to multisystemic dysfunction. The systemic manifestations include a proximal renal tubular defect (Fanconi-like), endocrinal disturbances, eye involvements, with corneal, conjunctival and retinal depositions, and neurological manifestations in the form of brain and muscle dysfunction. Most of the long-term ill effects of cystinosis are observed particularly in patients with long survival as a result of a renal transplant. Its responsible CTNS gene that encodes the lysosomal cystine carrier protein (cystinosin) has been mapped on the short arm of chromosome 17 (Ch17 p13). There are three clinical forms based on the onset of main symptoms: nephropathic infantile form, nephropathic juvenile form and non-nephropathic adult form with predominant ocular manifestations. Avoidance of eye damage from sun exposure, use of cystine chelators (cysteamine) and finally renal transplantation are the main treatment lines. Pre-implantation genetic diagnosis for carrier parents is pivotal in the prevention of recurrence.
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