Results 1 to 10 of about 5,949 (144)

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline [PDF]

Orphanet Journal of Rare Diseases
Background Cystinosis is a rare genetic disorder, with the majority of patients suffering from infantile nephropathic cystinosis, the most severe form. If left untreated, cystinosis causes serious morbidity, initially through progressive kidney and eye ...
Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer   +7 more
doaj   +3 more sources

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis

Journal of Translational Medicine
Background Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio, Tjessa Bondue, Sarah Tassinari, Florian Siegerist, Angela Ferrulli, Celien Lismont, Sara Cairoli, Bianca Maria Goffredo, Bart Ghesquière, Marc Fransen, Nicole Endlich, Fanny Oliveira Arcolino, Benedetta Bussolati, Lambertus van den Heuvel, Elena Levtchenko   +14 more
doaj   +2 more sources

Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice [PDF]

BMC Nephrology
Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by ...
Sanat Subhash, Nicholas Pantelakis, Kyle Backston, Ruhaan Bajpai, Amir Safadi, Brandon Petrovich, Bradley A. Warady, Maria Diaz-Gonzalez de Ferris, Rupesh Raina   +8 more
doaj   +2 more sources

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

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, Sophie Molholm, John J. Foxe, Ana A. Francisco   +3 more
doaj   +2 more sources

Fertility Management in Cystinosis: A Clinical Perspective

Kidney International Reports, 2023
Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Craig B. Langman, Rowena B. Delos Santos, Cybele Ghossein, Andrea M. Atherton, Elena N. Levtchenko, Aude Servais   +5 more
doaj   +2 more sources

Hematopoietic Stem-Cell Gene Therapy for Cystinosis. [PDF]

N Engl J Med
Background Cystinosis is a multisystemic lysosomal storage disorder caused by mutations in the CTNS gene encoding the transmembrane lysosomal cystine transporter, cystinosin. In cystinosis, cystine accumulates within lysosomes in all organs.
Barshop BA, Ball ED, Benador N, Trauner D, Phillips S, Dohil R, Afshari NA, Roy S, Campo Fernandes B, Kohn D, Shayan K, Everett JK, Bushman FD, Midgley J, Liang H, Sawyers A, Gangoiti JA, Panchal M, Ahmed I, Cherqui S.   +19 more
europepmc   +2 more sources

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies

Cells, 2022
The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis.
Mohamed A. Elmonem, Koenraad R. P. Veys, Giusi Prencipe   +2 more
doaj   +2 more sources

A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm [PDF]

Frontiers in Nephrology
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but
Sophie Molholm, Sophie Molholm, Sophie Molholm, Ana A. Francisco, Douwe J. Horsthuis, Tringa Lecaj, Dennis Cregin, Chloe Brittenham, John J. Foxe, John J. Foxe, John J. Foxe   +10 more
doaj   +2 more sources

Emerging therapeutic strategies for cystinosis. [PDF]

Front Pediatr
For over 40 years, oral cysteamine has been the mainstay of therapy for cystinosis. While it has been of great benefit, slowing organ deterioration and prolonging life, cysteamine is not well tolerated and may not rescue all pathogenic mechanisms driving
Goodyer P, Torban E.
europepmc   +2 more sources

Long-term outcomes in nephropathic cystinosis: a review. [PDF]

Pediatr Nephrol
Nephropathic cystinosis is a lysosomal storage disease due to biallelic pathogenic variants in the CTNS gene encoding the cystine transport protein cystinosin. Dysfunction of cystinosin results in the intralysosomal accumulation of the disulfide cystine,
Chang HE, Hossain MS, Song C, Surampudi N, Nesterova G, Gahl WA.   +5 more
europepmc   +2 more sources