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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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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Infantile nephropathic cystinosis [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective.
Peco-Antić Amira +6 more
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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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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
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Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience [PDF]
Italian Journal of PediatricsBackground Nephropathic Cystinosis is a rare autosomal recessive lysosomal storage disorder. In addition to kidney dysfunction, this disorder can also affect other organs, such as the eyes, thyroid, muscles, and central nervous system.
Rasha Helmy +2 more
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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
Clinical Case Reports (discontinued), 2018 Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease.
Ekaterina Surkova
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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
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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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Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Nefrologia, 2015 Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saïed Jaradat, Kamal Akl
exaly +5 more sources