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
doaj +2 more sources
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
exaly +2 more sources
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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Crystalline keratopathy in nephropathic cystinosis. [PDF]
Sudan J Paediatr, 2019 A 3-year-old male child presented with complaints of poor weight gain, delayed motor milestones since 1 year of age and features suggestive of rickets (wrist widening, bowing of legs and Harrisons sulcus). He was third born of a third degree consanguineous marriage, had polyuria, with investigations revealing proximal renal tubular acidosis and ...
Priyanka, Bhatt GC, Kumar A, Takkar B.
europepmc +4 more sources
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 Marco Pennesi +2 more
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Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts [PDF]
Cells, 2022 Justine Bacchetta +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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Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy [PDF]
International Journal of Molecular Sciences, 2020 Justine Bacchetta +2 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
openaire +2 more sources