Cells, 2021 Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications.
Ahmed Reda +2 more
doaj +10 more sources
Newborn Screening: Review of its Impact for Cystinosis [PDF]
Cells, 2022 Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner +5 more
doaj +4 more sources
Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis. [PDF]
Front ImmunolCystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Rossi MN +12 more
europepmc +4 more sources
A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland [PDF]
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 +3 more sources
Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients [PDF]
Clinical Kidney Journal, 2022 Clinical recommendations; Cystinosis; Multidisciplinary careRecomendaciones clínicas; Cistinosis; Atención multidisciplinariaRecomanacions clíniques; Cistinosi; Atenció multidisciplinàriaCystinosis, a rare autosomal recessive lysosomal storage disorder ...
Ariceta Iraola, Gema +5 more
core +5 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 +2 more
doaj +2 more sources
The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis. [PDF]
Autophagy, 2023 Differentiation and fate decisions are critical for the epithelial cells lining the proximal tubule (PT) of the kidney, but the signals involved remain unknown.
Luciani A, Devuyst O.
europepmc +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
Urine-Derived Kidney Progenitor Cells in Cystinosis
Cells, 2022 Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys +15 more
doaj +2 more sources
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) [PDF]
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 +2 more sources