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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
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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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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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Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned [PDF]
Frontiers in PediatricsCystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body ( 1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and ...
Brianna Borsheim +4 more
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Anaesthetic implications of cystinosis [PDF]
Canadian Journal of Anaesthesia, 1993 The author presents and discusses the anaesthetic care of a 12-yr-old boy with cystinosis. Cystinosis is a recessively inherited disorder of amino acid metabolism resulting in the abnormal intracellular accumulation of cystine. Anaesthetic care may be affected by variable end-organ involvement, most notably progressive renal deterioration beginning ...
Joseph D. Tobias
openalex +5 more sources
Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis [PDF]
Journal of Translational MedicineBackground Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio +14 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
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
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Intermediate cystinosis: a case report of 10-year treatment with cysteamine [PDF]
BMC NephrologyBackground Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases.
Mariko Kawamura +9 more
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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 ...
João Pedro Marques, Hong Liang
exaly +3 more sources