Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation
Indian Journal of Pathology and Microbiology, 2019 Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai +4 more
doaj +1 more source
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam [PDF]
Türk Oftalmoloji Dergisi, 2017 We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
Mahmut Ecel, Ayça Sarı, Ali Delibaş
doaj +1 more source
Synthesis of diacylated γ-glutamyl-cysteamine prodrugs, and in vitro evaluation of their cytotoxicity and intracellular delivery of cysteamine [PDF]
, 2015 To overcome the major disadvantages of cysteamine, the only registered treatment for the rare genetic disease cystinosis, nine prodrugs of γ-glutamyl-cysteamine (4) were synthesized for evaluation.
Anderson, Rosaleen +5 more
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Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
BMC Nephrology, 2017 Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi +5 more
doaj +1 more source
Anaesthetic management of a child with cystinosis
Egyptian Journal of Anaesthesia, 2017 Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma +3 more
doaj +1 more source
Prenatal diagnosis of cystinosis [PDF]
, 1975 Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie +3 more
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Cysteamine inhibits lysosomal oxidation of low density lipoprotein in human macrophages and reduces atherosclerosis in mice [PDF]
, 2019 Background and aims: We have shown previously that low density lipoprotein (LDL) aggregated by vortexing is internalised by macrophages and oxidised by iron in lysosomes to form the advanced lipid/protein oxidation product ceroid.
Ahmad +73 more
core +1 more source
BMC Nephrology, 2019 Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh +7 more
doaj +1 more source
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate [PDF]
, 2012 Halitosis due to dimethylsulfide (DMS) generation is a major side effect of cysteamine in the treatment of cystinosis. Recently, an enteric coated formulation of cysteamine bitartrate (RP103) administered twice daily was demonstrated to be non-inferior ...
Besouw, Martine +4 more
core +1 more source
CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population [PDF]
, 2018 Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene.
Carmo Macário, Maria do +16 more
core +1 more source