Cystinosis

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.

Also Known As:

Networked: 497 relevant articles (13 outcomes, 42 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Fanconi Syndrome (Syndrome, Fanconi)
2.	Disease Progression
3.	Oculocerebrorenal Syndrome (Lowe Syndrome)
4.	Glycogen Storage Disease (Glycogenosis)
5.	Lysosomal Storage Diseases (Lysosomal Storage Disease)

Experts

1.	Levtchenko, Elena N: 19 articles (08/2015 - 10/2002)
2.	Antignac, Corinne: 16 articles (07/2015 - 08/2002)
3.	Gahl, William A: 15 articles (06/2015 - 08/2002)
4.	Cherqui, Stephanie: 12 articles (11/2015 - 09/2009)
5.	Dohil, Ranjan: 12 articles (09/2014 - 08/2003)
6.	Niaudet, Patrick: 10 articles (01/2015 - 12/2010)
7.	van den Heuvel, Lambertus P: 10 articles (09/2013 - 11/2005)
8.	Kleta, Robert: 10 articles (08/2007 - 08/2002)
9.	Emma, Francesco: 9 articles (01/2015 - 11/2010)
10.	Levtchenko, Elena: 9 articles (09/2014 - 09/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cystinosis:

1.	Cysteamine (Mercaptamine)FDA Link 12/01/2010 - "In conclusion, our experience shows a significant improvement in the renal and nonrenal complications of cystinosis over the past decades and highlights the importance of early diagnosis in order to initiate cysteamine as soon as possible." 07/01/1996 - "The concentrations of cysteamine that are effective against HIV-1 in vitro have been well tolerated over long periods by patients under treatment for cystinosis, an inherited disorder. " 01/01/1996 - "These results suggest that cysteamine may be an effective treatment of cystinosis encephalopathy and encourage prescription of this drug in cystinosis in order to prevent this complication." 01/01/1995 - "This method was used to re-analyse data on the efficacy of cysteamine treatment and to re-analyse new data on treating cystinosis patients with either of two doses of cysteamine (1.30 g/m2 per day and 1.95 g/m2 per day). " 03/01/2015 - "Cysteamine has improved survival and prognosis in cystinosis. "
2.	Cystine (L-Cystine)IBA 02/01/2010 - "The goal of this work was to study white matter (WM) integrity in children with cystinosis, a rare lysosomal storage disorder resulting in cystine accumulation in peripheral and central nervous system tissue. " 08/01/1995 - "Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis." 10/15/1993 - "The lysosomal accumulation of cystine in this mutant mouse provides the experimental opportunity to study some aspects of the deficiency of lysosomal cystine transport noted in cystinosis." 02/01/1987 - "Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. " 08/31/1984 - "The results on cystinotic fibroblasts are consistent with those observed in leucocytes, suggesting that fibroblasts can be useful in further studies to elucidate the clearance defect of cystine in cystinosis as well as its potential in antenatal diagnosis."
3.	Nephropathic cystinosisIBA 01/01/2010 - "We performed semi-quantitative analysis of tubular density in kidney biopsies from patients with nephropathic cystinosis and demonstrated a significant reduction (p=0.0003) in the number of proximal tubules in the kidney tissue of patients with cystinosis compared to normal kidneys and kidneys with other causes of renal injury; this reduction appears to be associated with the over-expression of caspase-4. " 12/01/1999 - "In this study, we screened patients with infantile nephropathic cystinosis, those with late-onset cystinosis and patients whose phenotype does not fit the classical definitions. " 11/01/2011 - "There are three types of cystinosis, infantile nephropathic cystinosis being the most severe form. " 08/01/2011 - "Here we report the natural history of cystinosis in a 55-year-old man with intermediate nephropathic cystinosis diagnosed at 9 years of age. " 10/01/2010 - "We used renal proximal tubular epithelial (RPTE) cells and fibroblasts from patients with three clinical variants of cystinosis: nephropathic, intermediate and ocular to explore the specific injury mechanism in nephropathic cystinosis. "
4.	Vitamin DFDA LinkGeneric 12/01/1988 - "Cystinosis and vitamin D." 05/01/1988 - "Nephrogenic diabetes insipidus, cystinosis, and vitamin D." 03/01/1986 - "A patient affected with Debrè-De Toni-Fanconi syndrome secondary to cystinosis, has been given doses of vitamin D metabolites. " 03/01/1986 - "[Determination of metabolites of vitamin D in a case of Debré-De Toni-Fanconi syndrome secondary to cystinosis]." 10/01/1973 - "Bone disease in two cases of cystinosis--histomorphometric analysis of the vitamin D effect."
5.	artemisinine (artemisinin)IBA 08/01/2010 - "Cysteamine, the molecule used to treat cystinosis, potentiates the antimalarial efficacy of artemisinin." 08/01/2011 - "In mouse models of infection, cysteamine not only displays anti-malarial activity of its own, but also dramatically potentiates the anti-malarial activity of artemisinin, at doses currently used for the clinical management of cystinosis. " 08/01/2010 - "Using a mouse model of infection with Plasmodium chabaudi AS, we observe that Cys dosing used to treat cystinosis in humans can strongly potentiate (by 3- to 4-fold) the antimalarial properties of the artemisinin derivatives artesunate and dihydroartemisinin. "
6.	ElectrolytesIBA 09/15/1982 - "In idiopathic Fanconi syndrome, cystinosis, oculocerebrorenal syndrome and glycogenosis Fanconi-Bickel, a symptomatic replacement treatment based on supplementation of water, electrolytes and vitamin D has improved the non-uremic survival of these patients considerably within the last 20 years. "
7.	CystamineIBA 08/01/1998 - "Hence, the lack of efficacy of the disulfide cystamine suggests that some corneal cystine crystals in cystinosis patients are extracellular, and that another form of stable, topical cysteamine must be developed for cystinosis patients." 08/01/1998 - "One eye each of 14 patients with cystinosis was randomized to either cystamine or cysteamine, 0.5%, with 0.01% benzalkonium chloride; the companion eye was treated with the alternate preparation. " 08/01/1998 - "A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis."
8.	Cysteine (L-Cysteine)FDA Link 01/01/2007 - "Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. " 09/01/2005 - "We hypothesized that cytosolic cysteine deficiency resulting in intracellular glutathione (GSH) shortage might be involved in cellular dysfunction in cystinosis. " 03/01/2003 - "Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cystine, the disulfide of the amino acid cysteine. " 08/07/1970 - "In cultured fibroblasts from individuals with cystinosis vacuolation is induced by exposure to L-cysteine-D-penicillamine disulfide. " 08/07/1970 - "Cystinosis: selective induction of vacuolation in fibroblasts by L-cysteine-D-penicillamine disulfide."
9.	Glutathione (Reduced Glutathione)IBA 06/28/2004 - "We performed kinetic studies and investigated the effects of reduced glutathione (GSH), a biologically occurring thiol groups protector, and cysteamine, the drug used for cystinosis treatment, on the enzyme activity. " 06/01/2014 - "There is solid evidence that cystine accumulation itself is not responsible for all abnormalities in cystinosis; there is also a deficiency of glutathione in the cytosol. " 06/01/2011 - "No differences between control and cystinosis cell lines were observed with respect to protein turnover, albumin uptake, cytosolic and mitochondrial ATP production, total glutathione levels, protein oxidation and lipid peroxidation. " 09/01/2005 - "We hypothesized that cytosolic cysteine deficiency resulting in intracellular glutathione (GSH) shortage might be involved in cellular dysfunction in cystinosis. " 09/30/1978 - "[Ergothioneine and reduced ergothioneine/glutathione (GSH) ratio in erythrocytes of patients with cystinosis and in heterozygotes]."
10.	Ophthalmic Solutions (Eye Drops)IBA 11/01/2013 - "The corneal manifestations of cystinosis are treated by hourly instillation of cysteamine eye drops each day while awake. " 09/01/2009 - "Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy." 03/26/1987 - "Cysteamine eyedrops appear to be safe and efficacious in the short-term treatment of patients with cystinosis who are under two years of age. " 04/01/1995 - "The efficiency of cysteamine eye drops in the treatment of cystinosis has been demonstrated in several studies: Corneal cystine crystals can be removed by topical cysteamine. " 03/26/1987 - "After an in vitro study of cystinotic corneal stromal cells showed cystine depletion by cysteamine and after topical cysteamine was determined to be nontoxic in rabbits, we performed a controlled double-blind clinical trial of 10 mM cysteamine eyedrops in young patients with cystinosis, using one eye for treatment and the other as the control. "

Therapies and Procedures

1.	Kidney Transplantation 01/01/2015 - "Renal transplantation appears to be safe with excellent long-term outcomes in patients with cystinosis. " 01/01/2015 - "We evaluated long-term outcomes of renal transplantation in adult patients with cystinosis. " 01/01/2015 - "Data about safety and efficiency of renal transplantation in patients with cystinosis is scarce. " 01/01/2015 - "Excellent long-term outcome of renal transplantation in cystinosis patients." 01/01/2015 - "Patient and graft survival following kidney transplantation in recipients with cystinosis: a cohort study."
2.	Transplants (Transplant) 12/01/1995 - "This study suggests that patients with a primary diagnosis of cystinosis have superior outcomes, while the diagnoses of FSGS and CNS carry with them the highest risks of graft failure." 11/06/2013 - "Most of the long-term ill effects of cystinosis are observed particularly in patients with long survival as a result of a renal transplant. " 02/01/2005 - "Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. " 04/01/2003 - "Of the 63 renal transplants performed at our institution, 11 children were transplanted due to cystinosis. " 06/01/2001 - "A total of 74 children with cystinosis (age 3.0 to 18 years) were treated with GH over a mean period of 3.1 years (range 1 to 10 years); 52 patients were receiving conservative treatment (mean age 7.1 years), 7 were receiving dialysis (12.5 years), and 15 had received a renal transplant (14.8 years). "
3.	Transplantation (Transplant Recipients) 11/01/2015 - "We investigated the potential for HSPC transplantation to treat corneal defects in cystinosis. " 07/01/2011 - "This may be the first report of new-onset lupus in a kidney transplant recipient with cystinosis. " 06/01/2011 - "We had previously shown that transplanting bone marrow and hematopoietic stem cells could generate renal cells and lead to the preservation of kidney function in a mouse model for cystinosis (Ctns(-/-)) that develops chronic kidney injury, 4 months post transplantation. " 07/01/2010 - "This work suggests that BMC or HSC transplantation is a potential treatment for cystinosis and other renal tubular disorders." 09/17/2009 - "This work is a proof of concept for using HSC transplantation as a therapy for cystinosis and highlights the efficiency of this strategy for a chronic, progressive degenerative disease."
4.	Homologous Transplantation (Allograft) 01/01/2013 - "Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. " 01/01/2012 - "They were diagnosed with cystinosis at ages 5 and 9 years, and received allografts at ages 13.4 (younger) and 19.8 and 26.4 (elder) years. " 12/01/1989 - "Twenty-four biopsies of generally cadaveric renal allografts from 20 patients with cystinosis were examined by light, polarization, phase contrast and electron microscopy. " 12/01/1989 - "Renal allografts in cystinosis and mesangial demography." 05/01/1989 - "Twenty-four biopsies of renal allografts, generally cadaveric, from 20 patients with cystinosis were examined by light, polarization, phase contrast, and electron microscopy. "
5.	Renal Replacement Therapy (Therapies, Renal Replacement) 01/01/2015 - "Patients with cystinosis begin renal replacement therapy during the first decade of life in absence of treatment. " 10/01/2006 - "Longer survival of cystinosis patients due to successful renal replacement therapy, revealed previously unknown extra-renal symptoms of cystinosis, generally appearing after the first decade. " 07/01/2012 - "We studied cystinosis patients, aged lower than 18 years, with different degrees of renal function, classified according to KDOQI in Chronic Kidney Disease stage 1 to 4. No patient was under renal replacement therapy. " 08/01/2008 - "Infantile cystinosis typically leads to end-stage renal disease, necessitating renal replacement therapy. "