Ophthalmology and Therapy, 2018 Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas +5 more
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Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region [PDF]
ChildrenCystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require ...
Hassan Aleid +9 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
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Prenatal diagnosis of cystinosis [PDF]
The Journal of Pediatrics, 1975 Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie +3 more
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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
Diagnosis and management of cystinosis: systematic review for a clinical practice guideline [PDF]
Orphanet Journal of Rare DiseasesBackground 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 +7 more
doaj +2 more sources
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
doaj +2 more sources
Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter [PDF]
EMBO Journal, 2001 Vasiliki Kalatzis
openalex +3 more sources
A Personal History of Cystinosis by Dr. Jerry Schneider
Cells, 2022 Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
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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
doaj +1 more source