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Nephropathic Infantile Cystinosis in an 8-year-old Girl
Paediatric Nephrology Journal of Bangladesh, 2021Nephropathic infantile cystinosis is a rare congenital metabolic disorder with an autosomal recessive penetrance in the family, which causes the accumulation of cystine in the lysosomes of different organs of the body. The nephropathic infantile type presents in early infancy in the form of proximal renal tubular acidosis and ...
M Abdul Qader +3 more
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Treatment of Infantile Nephropathic Cystinosis with Cysteamine
New England Journal of Medicine, 1986exaly +2 more sources
Nephropathic Infantile Form of Cystinosis About One Case
Fetal and Pediatric Pathology, 2012Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with a failure to thrive and with signs of renal proximal tubular damage. This is a study of a case report of cystinosis revealed by a growth failure and chronic dehydration.
Lamia, Sfaihi +4 more
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Long-Term Treatment of Infantile Nephropathic Cystinosis with Cysteamine
New England Journal of Medicine, 1985CYSTINOSIS is a rare autosomal recessive metabolic disorder of children and adults, characterized biochemically by intracellular accumulation of free, nonprotein cystine crystals in the reticuloend...
V A, da Silva +7 more
exaly +3 more sources
Cortical atrophy and cognitive performance in infantile nephropathic cystinosis
Pediatric Neurology, 1990A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patients with greater atrophy; however ...
S L, Nichols +3 more
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Cholestatic liver disease in long‐term infantile nephropathic cystinosis
Journal of Gastroenterology and Hepatology, 2008AbstractBackground: Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life‐threatening organ dysfunction. Infantile cystinosis typically leads to end‐stage renal disease, necessitating renal replacement therapy.
Tom, Cornelis +7 more
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Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
2021Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Urbano, Filipa +4 more
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Visuomotor Performance in Children with Infantile Nephropathy Cystinosis
Perceptual and Motor Skills, 1996Infantile nephropathy cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain. Despite normal intellect, individuals with cystinosis may have specific impairments in the processing of visual information.
K M, Scarvie +2 more
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Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis
Journal of Pediatrics, 1992We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with ...
Barbara R Cole +2 more
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Transplantation Proceedings, 2019
Cystinosis is a rare genetic disorder characterized by the abnormal accumulation of cystine in the lysosomes of various tissues and organs leading to their dysfunction. The most common type is the infantile nephropathic cystinosis which without treatment leads to renal failure and before the introduction of cysteamine was the cause of death before ...
Kuczborska, K. +6 more
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Cystinosis is a rare genetic disorder characterized by the abnormal accumulation of cystine in the lysosomes of various tissues and organs leading to their dysfunction. The most common type is the infantile nephropathic cystinosis which without treatment leads to renal failure and before the introduction of cysteamine was the cause of death before ...
Kuczborska, K. +6 more
openaire +2 more sources