Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesThere are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
Karina González +3 more
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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
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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 +2 more
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Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy [PDF]
Molecular Genetics and Metabolism ReportsUntreated nephropathic cystinosis is a lethal autosomal recessive disease. The current specific therapy, cysteamine, ameliorates the renal function loss, but does not alter the renal Fanconi syndrome, short stature, muscle weakness, male infertility, and
Jess G. Thoene
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Cystinosis symposium: a rare disease model for comprehensive care [PDF]
Frontiers in PediatricsThe time to provide a forum for collaboration in cystinosis research underscored the recent Cystinosis Symposium: A Rare Disease Model for Comprehensive Care held at the New York Academy of Medicine, on 31 May 2024, an event sponsored by the Cystinosis ...
Ashley M. Gefen +3 more
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Egyptian Pediatric Association GazetteBackground Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy +4 more
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Neuroretinal structure changes in infantile nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesBackground The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis. Methods In this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the ...
Leonie Franziska Keidel +6 more
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Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, 2023 Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt +3 more
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The assessment and treatment of the musculoskeletal manifestations of cystinosis [PDF]
Frontiers in NephrologyCystinosis is a rare autosomal recessive lysosomal storage disease caused by a defective lysosomal cystine carrier protein, cystinosin, resulting in formation and deposition of cystine crystals throughout the body. The renal manifestations of the disease
Priya Singh +2 more
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Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients. [PDF]
Br J OphthalmolAims To analyse the correlation between the physician categories defined by the 3C classification (crystal-complication-compliance) and the ocular manifestations of nephropathic cystinosis. Methods The last visit data of 64 patients aged between 2 and 64
Liang H, Baudouin C, Giordano V.
europepmc +2 more sources