Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome.
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DOI: 10.1001/jamaophthalmol.2016.5169
Abstract: An adolescent girl presented with decreased vision and mild nystagmus since childhood. Best-corrected visual acuity was 20/40 OD and 20/100 OS. She had a history of infantile cystinosis with resulting Fanconi syndrome and renal failure… read more here.
Keywords: nephopathic cystinosis; cystinosis fanconi; crystals nephopathic; intraretinal crystals ... See more keywords
Central nervous system complications in adult cystinosis patients
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12164
Abstract: Little is known about the long‐term progression of adult nephropathic cystinosis patients. Our objective was to study central nervous system complications in cystinosis patients in the era of early cysteamine treatment, using advanced neuroimaging techniques.… read more here.
Keywords: cystinosis patients; nervous system; central nervous; system complications ... See more keywords
Pregnancy in cystinosis patients with chronic kidney disease: A European case series
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12529
Abstract: Cystinosis is a rare autosomal recessive disease leading to end‐stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes… read more here.
Keywords: disease; chronic kidney; pregnancy; kidney disease ... See more keywords
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12562
Abstract: Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end‐stage kidney disease (ESKD) and reduces the… read more here.
Keywords: infantile nephropathic; age; nephropathic cystinosis; cohort study ... See more keywords
Cystinosis: A 6.5-Year-Follow-up Study
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DOI: 10.1007/s12098-022-04161-9
Abstract: To the Editor: Cystinosis is an autosomal recessive disorder, in which, free cystine accumulates continuously in lysosomes throughout the body [1]. We diagnosed cystinosis when proximal renal tubular acidosis (PRTA), with or without Fanconi syndrome… read more here.
Keywords: ckd stage; year follow; follow study; cystinosis ... See more keywords
Inducible nitric oxide synthase-derived nitric oxide promotes mitochondrial dysfunction, altered nutrient metabolism, and apoptosis in Ctns null kidney proximal tubular epithelial cells
Sign Up to like & getrecommendations! Published in 2018 at "Free Radical Biology and Medicine"
DOI: 10.1016/j.freeradbiomed.2018.10.221
Abstract: Nitric oxide (NO) has been shown to play an important role in renal physiology and pathophysiology partly through its influence on various solute transport systems in the kidney proximal tubule. Coincidentally, the same transport systems… read more here.
Keywords: apoptosis; ctns null; nutrient metabolism; kidney proximal ... See more keywords
Swallowing dysfunction in patients with nephropathic cystinosis.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.01.011
Abstract: INTRODUCTION Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like… read more here.
Keywords: patients cystinosis; patients nephropathic; swallowing dysfunction; nephropathic cystinosis ... See more keywords
Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.
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DOI: 10.1055/s-0037-1599653
Abstract: Cystinosis 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 transport cystine out of the lysosomes. Due to… read more here.
Keywords: posterior segment; cystine crystals; cystine; review ... See more keywords
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis
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DOI: 10.1093/hmg/ddac033
Abstract: Abstract Recessive mutations in the CTNS gene encoding the lysosomal transporter cystinosin cause cystinosis, a lysosomal storage disease leading to kidney failure and multisystem manifestations. A Ctns knockout mouse model recapitulates features of cystinosis, but… read more here.
Keywords: kidney; rat model; model; cystinosis ... See more keywords
P0075EXPERT OPINION ON THE MULTIDISCIPLINARY MANAGEMENT OF CYSTINOSIS IN ADOLESCENT AND ADULT PATIENTS
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DOI: 10.1093/ndt/gfaa142.p0075
Abstract: Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene on chromosome 17p13. It affects between 1:150,000–1:200,000 live births, with a prevalence of approximately 1.6 per million. It is… read more here.
Keywords: organ effects; management; clinical recommendations; multi organ ... See more keywords
CYSTINOSIS IN PEDIATRIC RENAL TRANSPLANT RECIPIENTS: CASE CONTROL STUDY FROM KUWAIT
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DOI: 10.1097/01.tp.0000700916.26427.2c
Abstract: Introduction and Aim: Cystinosis is an autosomal recessive lipsosomal storage multisystem disease characterized by deficient cystenosin that result in cystine accumulation in the lysosomes. It can lead to end stage kidney disease in most of… read more here.
Keywords: pediatric renal; control; transplant; renal transplant ... See more keywords