Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease [PDF]
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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In Vitro and In Vivo Models to Study Nephropathic Cystinosis [PDF]
Cells, 2021 The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung +3 more
doaj +3 more sources
Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to “A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis”) [PDF]
Orphanet Journal of Rare Diseases, 2023 The aim of this letter to the editor is to summarize the results from three clinical trial programs evaluating delayed-release cysteamine bitartrate (DR-CYS), which demonstrated the long-term clinical benefits in patients with nephropathic cystinosis ...
Craig B. Langman
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Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies [PDF]
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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Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]
Türk Oftalmoloji DergisiCystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Sema Üzüm +4 more
doaj +3 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
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Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience [PDF]
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk +5 more
doaj +3 more sources
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
doaj +2 more sources
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives [PDF]
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 ...
Canalini F. +9 more
core +2 more sources
Nephropathic cystinosis: an international consensus document [PDF]
Nephrology Dialysis Transplantation, 2014 Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children.
Stephanie Cherqui +2 more
exaly +10 more sources