Wilcox, P., and Patrick, A. D. (1974). Archives of Disease in Childhood, 49,209. Biochemical diagnosis of cystinosis using cultured ceils. A simple method is described for the biochemical diagnosis of cystinosis using small numbers of cells cultured in medium containing L-35S-cystine. Nonprotein sulphur-labelled compounds were extracted from the cells and separated by thin-layer chromatography....

Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-prot...

Cystinosis as a clinical entity is a progressive dysfunction of multiple organs caused by the accumulation of cystine in the tissues, leading, for example, to end-stage renal failure, diabetes, hypothyroidism, myopathy, and central nervous system deterioration. Brodin-Sartorius and colleagues present a long-term study on the impact of cysteamine therapy on these complications. The data show tha...

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we ha...

Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage renal disease. The pathogenesis of defective PT cellular transport in nephropathic cystinosis remains unclear. We characterized a recently gene...

Osteogenesis imperfecta type VI (OI type VI) is a rare autosomal recessive disorder caused by mutations in the SERPINF1 gene that encodes pigment epithelium-derived factor (PEDF). Cystinosis is an autosomal recessive lysosomal transport disorder caused by mutations in the CTNS gene. Both SERPINF1 and CTNS are located on chromosome 17p13.3. We describe an individual presenting with both OI type ...

Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene located on the short arm of chromosome 17 [1,2]. The CTNS gene encodes a lysosomal cystine transporter protein, cystinosin, which helps facilitate the efflux of cystine from lysosomes. The accumulation of the disulfide amino acid cystine within cellular lysosomes leads to the formation of cystine crystals in ...

Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of most organs. The disorder is treated by regular administration of the aminothiol, cysteamine, an odiferous and unpleasant tasting compound that along with its metabolites is excreted in breath and sweat, leading to poor patient compliance. In an attempt to improve pa...

Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps forward in our understanding rather than by a sustained research effort fuelled by the larger research community. Major conceptual break-throughs inc...

The transition from pediatric to adult medical services has a greater impact on the care of adolescents or young adults with chronic diseases such as cystinosis. This transition period is a time of psychosocial development and new responsibilities placing these patients at increased risk of non-adherence. This can lead to serious adverse effects such as graft loss and progression of the disease...