Introduction Nephropathic cystinosis is a rare autosomal recessive disorder caused by a mutation in the CTNS gene, which encodes for cystinosin. It is characterized by the lysosomal accumulation of cystine, which leads to the formation of cystine crystals within various organs, including kidneys, brain, cornea, intestine and bone marrow. The exact role of intralysosomal cystine crystals accumul...

Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated. Extrarenal organs are also affected, including the thyroid gland, gonads, pancreas, liver, muscle, and brain. Treatment consists of administrati...

The dehydration of a iodobismuthate hybrid built up from Bi(4)I(16) clusters and protonated L-cystine molecules involves an unprecedented reversible dynamic structural change in the solid state leading to 1D BiI(4) chains and 1D helical molecular chains, highlighting the templating effect of cations in the formation of iodobismuthate network.

AIMS Cysteamine is used to reduce tissue cystine content in patients suffering from nephropathic cystinosis. The objectives of the current study were to investigate pharmacokinetics and pharmacodynamics of cysteamine bitartrate in children and young adults with nephropathic cystinosis. METHODS Cysteamine bitartrate was administered to 11 cystinosis patients at their regular dose level in a si...

Nephropathic subjects show an increased tendency to develop cardiovascular diseases, mainly as the consequence of several risk factors including increased oxidative stress, inflammation, physical inactivity, anemia, vascular calcification, and endothelial dysfunction. The alterations in lipid metabolism represent a relatively lesser important cause of genesis and progression of atherosclerosis....

INTRODUCTION. The impact of several environmental and genetic factors on diabetes mellitus and its complications is well documented. It has also been established that cytokines play key roles in the pathogenesis of nephropathy. Polymorphisms of the -590 region of interleukin (IL)-4 are associated with the regulation of expression of this gene. In this study, we aimed to find polymorphisms of th...

A key unresolved question in the pathogenesis of phenotype development in nephropathic cystinosis is whether intralysosomal cystine, the hallmark of this lethal inborn error of metabolism, alters cytoplasmic redox potential. Variable findings on this issue have been reported. This study of fetal and non-fetal skin and lung-derived cystinotic fibroblasts compared to origin and age-matched normal...

INTRODUCTION We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise tolerance as a consequence of ventricular dysfunction, the result of embolus or with palpitations and syncope due to arrhythmia. There is no s...