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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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 I Surkova
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JIMD Reports, 2022 Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that is characterized by accumulation of cysteine and formation of crystals within cells of different organs and tissues causing systemic manifestations in childhood that ...
Maria Helena Vaisbich +6 more
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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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Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives [PDF]
Cells, 2022 Francesco Emma +2 more
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Testicular function in males with infantile nephropathic cystinosis [PDF]
Human Reproduction, 2021 Julia Rohayem +2 more
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Nephropathic cystinosis in children: An overlooked disease
Saudi Journal of Kidney Diseases and Transplantation, 2009 Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children ...
Soliman Neveen +4 more
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Infantile nephropathic cystinosis [PDF]
Kidney International, 2008 CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
Stokes, M.B. +2 more
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Nephropathic cystinosis: an update [PDF]
Current Opinion in Pediatrics, 2017 Purpose of review Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes.
Veys, K.R. +6 more
openaire +3 more sources
Middle East Current Psychiatry, 2022 Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia +3 more
doaj +1 more source