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Extrarenal complications of cystinosis
Pediatric nephrology (Berlin, West), 2023 Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000–200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene that lead to impaired cystine transport from lysosomes to cystosol, resulting in ...
R. Topaloğlu
semanticscholar +2 more sources
Emerging therapeutic strategies for cystinosis. [PDF]
Front PediatrFor 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 +4 more sources
Journal of Rare DiseasesBackground Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor +4 more
doaj +2 more sources
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 +5 more sources
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives
Cells, 2022 Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased ...
F. Emma +9 more
semanticscholar +2 more sources
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
doaj +2 more sources
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
doaj +2 more sources
Nephropathic Cystinosis : First reported case in Oman
Sultan Qaboos University Medical Journal, 2011 Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani +5 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2023 Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease.
Derya Bako +4 more
doaj +2 more sources
Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis [PDF]
Autophagy ReportsRAB11FIP4 (RAB11 family interacting protein 4), a RAB11A (Ras-related protein Rab-11) effector protein downregulated in cystinosis, plays a crucial role in cellular trafficking.
Mouad Ait Kbaich +2 more
doaj +2 more sources