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Neuropathic Cystinosis: A Rare Case Report [PDF]
مجله كليه طب الكنديCystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana +2 more
doaj +2 more sources
Saudi Journal of Kidney Diseases and Transplantation, 2016 Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj +2 more sources
Patient journey in cystinosis: focus on non-adherence and disease management [PDF]
Drugs in ContextBackground: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Gema Ariceta +6 more
doaj +2 more sources
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +2 more sources
The Lysosomal Clock: Are We Only as Old as Our Lysosomes? [PDF]
TrafficThe lysosomal clock of aging. Aging is associated with lysosomal accumulation of glycerophosphodiesters (GPDs) and cystine, alongside remodeling of bis(monoacylglycero)phosphate (BMP). This conserved metabolic signature predicts chronological age, is attenuated by caloric restriction in peripheral tissues, and is prominent in brain microglia and ...
Vegas AD, Galli T.
europepmc +2 more sources
Klinische Monatsblätter für Augenheilkunde, 2023 AbstractCystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 – 1 : 200,000, and is caused by mutations in the CTNS gene encoding the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome into the cytoplasm.
Katharina, Hohenfellner +2 more
openaire +4 more sources
Multimodal imaging of infantile nephropathic cystinosis
Indian Journal of Ophthalmology. Case Reports, 2021 Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
Krishna K Roy +3 more
doaj +1 more source
Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis [PDF]
, 2021 Cystinosis, as a rare disease, faces many difficulties with regard to appropriate early diagnostics and treatment. The aim of our study is to present current methods of diagnostics and treatment of ocular complications in an infantile nephropathic type ...
Rejdak, Robert; Department of General Ophthalmology and Paediatric Ophthalmology Service, Medical University of Lublin, Lublin, Poland +7 more
core +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain.
Douwe J. Horsthuis +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2016 Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation
Ibrahim, Mohamed +5 more
openaire +3 more sources