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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 ...
K. Kuczborska +6 more
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Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis
Klinische Monatsblätter für Augenheilkunde, 2023AbstractNephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ systems.
Franziska Kruse +4 more
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Ocular Complications of Infantile Nephropathic Cystinosis
The Journal of Pediatrics, 2017 Rachel Bishop
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Treatment of Infantile Nephropathic Cystinosis with Cysteamine
New England Journal of Medicine, 1986exaly +2 more sources
Posterior segment involvement in Infantile Nephropathic Cystinosis – A review
Klinische Monatsblätter für Augenheilkunde, 2023Cystinosis is a rare lysosomal storage disease with a prevalence of 1:100.000-1:200.000 cases. It is caused by biallelic mutations in the CTNS gene, which encodes cystinosin that transports cystine out of lysosomes. Due to its dysfunction cystine crystals accumulate in the lysosomes and ultimately cause apoptosis of the cell.
Leonie Franziska Keidel +6 more
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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis
Pediatric Nephrology, 2022Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian families
Mariem, El Younsi +9 more
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Infantile nephropathic cystinosis: Clinical features and outcome
Asian Journal of Pediatric Nephrology, 2020Background: Nephropathic infantile cystinosis, the most common cause of renal Fanconi syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and progresses to end stage renal disease during the first decade. Diagnosis is based on corneal examination for cystine crystals, leukocyte cystine content and genetic testing of the ...
Arvind Bagga +7 more
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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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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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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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