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:

Cystine Diathesis; Cystine Disease; Cystine Storage Disease; Cystinoses; Cystinosin, Defect of; Cystinosis, Nephropathic; Lysosomal Cystine Transport Protein, Defect Of; Nephropathic Cystinosis; Cystine Diatheses; Cystine Diseases; Cystine Storage Diseases; Cystinoses, Nephropathic; Defect of Cystinosin; Diatheses, Cystine; Diathesis, Cystine; Nephropathic Cystinoses; Storage Disease, Cystine; Storage Diseases, Cystine

Networked: 852 relevant articles (39 outcomes, 90 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Fanconi Syndrome (Syndrome, Fanconi)
2.	Renal Insufficiency (Renal Failure)
3.	Disease Progression
4.	Oculocerebrorenal Syndrome (Lowe Syndrome)
5.	Brain Diseases (Brain Disorder)

Experts

1.	Levtchenko, Elena: 32 articles (10/2022 - 09/2004)
2.	Levtchenko, Elena N: 28 articles (01/2021 - 10/2002)
3.	Emma, Francesco: 27 articles (01/2022 - 02/2006)
4.	Antignac, Corinne: 27 articles (11/2021 - 10/2001)
5.	Cherqui, Stephanie: 22 articles (01/2022 - 09/2009)
6.	Gahl, William A: 21 articles (01/2020 - 08/2002)
7.	van den Heuvel, Lambertus P: 17 articles (11/2021 - 11/2005)
8.	Elmonem, Mohamed A: 15 articles (01/2022 - 01/2014)
9.	Taranta, Anna: 15 articles (01/2022 - 05/2008)
10.	Dohil, Ranjan: 15 articles (01/2021 - 08/2003)

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." 12/03/2020 - "At present, cysteamine is the only topical effective treatment for ocular cystinosis. " 03/01/2008 - "This is the first report of a potential new therapeutic treatment for nephropathic cystinosis since the advent of cysteamine bitartrate." 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. " 06/01/2016 - "Recently, a new twice-daily administered delayed-release enteric-coated formula of cysteamine bitartrate (Procysbi(TM)) has been approved by the European Medical Agency for the treatment of cystinosis, and has been shown to be safe and effective. "
2.	Cystine (L-Cystine)IBA 01/09/2023 - "Currently, elevated white blood cell (WBC) cystine content is the gold standard for the diagnosis of cystinosis. " 12/21/2021 - "All of these models have helped shape our understanding of cystinosis and have led to the conclusion that cystine accumulation is not the only pathology that needs targeting in this multisystemic disease. " 03/01/2023 - "The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis. " 08/01/2021 - "GoldinLenses of this study can be used for drugless cystine removal cystinosis treatment with one- or five-hour wear at a time." 03/01/2021 - "The purpose of the present study was to establish a semi-automated threshold-based image segmentation algorithm to detect and objectively quantify corneal cystine crystal deposition in ocular cystinosis with anterior segment optical coherence tomography (AS-OCT). "
3.	Ophthalmic Solutions (Eye Drops)IBA 05/22/2022 - "The aim of our case report is to present the ophthalmic symptoms of cystinosis and the results of the first clinical application of viscous formulation of cysteamin eye drops in Hungary in a cystinosis patient. " 01/01/2017 - "Cystinosis patients ≥2 years old were randomized 1:1 to receive eye drops, four times per day for 90 days in both eyes. " 01/01/1997 - "Cysteamin eyedrops in three patients with nephropathic cystinosis." 03/01/2014 - "To establish the safety and efficacy of a new gel formulation of cysteamine hydrochloride (CH) eye drops, for the treatment of corneal complications of nephropathic cystinosis. " 01/01/2021 - "To evaluate safety and efficacy of topical cysteamine ophthalmic solution for corneal cystinosis. "
4.	Cysteine (L-Cysteine)FDA Link 06/01/2014 - "N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis." 08/01/2022 - "Recently, the presence of L-cysteine crystal has been underlined in the case of cystinosis. " 11/01/2019 - "Cystinosis is a rare autosomal recessive lysosomal storage disorder, which leads to abnormal accumulation of cysteine in various organs, including progressive dysfunction of kidneys. " 09/01/2021 - "Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). " 01/01/2022 - "Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that is characterized by accumulation of cysteine and formation of crystals within cells of different organs and tissues causing systemic manifestations in childhood that include poor linear growth, ocular involvement, hypothyroidism, and progressive kidney disease. "
5.	Nonsense Codon (Nonsense Mutation)IBA 08/30/2021 - "In our previous study, we have developed a zebrafish model of cystinosis through a nonsense mutation in the CTNS gene and have shown that zebrafish larvae recapitulate the kidney phenotype described in humans. " 12/01/2020 - "It is being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis (CF) and nephropathic cystinosis. " 01/01/2019 - "Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?" 01/01/2019 - "These studies establish proof-of-principle for the potential of aminoglycosides to treat cystinosis and possibly other monogenic diseases caused by nonsense mutations." 01/01/2019 - "About 15% of cystinosis patients worldwide carry one or more nonsense mutations that halt translation of the CTNS protein. "
6.	DisulfidesIBA 11/01/1990 - "This mixed disulfide rapidly exits the lysosome via the transport system for cationic amino acids which is normal in cystinosis. " 10/01/1977 - "Fibroblasts derived from patients with cystinosis, an autosomal recessive condition, accumulate the disulfide amino acid cystine within lysosomes. " 12/01/1970 - "The metabolism of amino acids, peptides, and disulfides has been investigates in cultured skin fibroblasts from normal individuals and patients with cystinosis. " 12/01/1970 - "The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis." 08/07/1970 - "In cultured fibroblasts from individuals with cystinosis vacuolation is induced by exposure to L-cysteine-D-penicillamine disulfide. "
7.	AntioxidantsIBA 05/15/2015 - "Antioxidant treatment targeted to mitochondria delays initiation of the SNL, and may provide therapeutic benefit in children with cystinosis. " 01/01/2022 - "The current in vitro study evaluated antioxidants, N-acetylcysteine amide (NACA; NPI-001) and (2R,2R')-3,3'-disulfanediyl bis(2-acetamidopropanamide) (diNACA; NPI-002), as potential treatments for cystinosis. " 05/01/2008 - "These results suggest that the antioxidant effect of cysteamine may be important in the treatment of cystinosis." 01/01/2012 - "Cysteamine, an anti-oxidant aminothiol, is the treatment of choice for nephropathic cystinosis, a rare lysosomal storage disease. " 01/01/2014 - "Because chronic kidney injury increases tissue oxidative stress, we evaluated the antifibrotic efficacy of cysteamine bitartrate, an antioxidant therapy for patients with nephropathic cystinosis, in a mouse model of unilateral ureteral obstruction. "
8.	Messenger RNA (mRNA)IBA 11/28/2023 - "Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis." 11/28/2023 - "Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns-/- zebrafish embryos. " 08/01/2011 - "There was a 72% reduction in PBMC TRPV1 mRNA levels in cystinosis individuals homozygous for the 57 kb deletion (n=6) compared to unaffected individuals without the deletion (n=6) (p=0.002). " 01/01/2000 - "The ocular cystinosis patients each had one severe mutation and one mild mutation, the latter consisting of either a 928 G-->A (G197R) mutation or an IVS10-3 C-->G splicing mutation resulting in the insertion of 182 bp of IVS10 into the CTNS mRNA. " 01/01/2000 - "The mild mutations appear to allow for residual CTNS mRNA production, significant amounts of lysosomal cystine transport, and lower levels of cellular cystine compared with those in nephropathic cystinosis. "
9.	GenisteinIBA 01/01/2023 - "These preclinical data indicate that genistein ameliorates kidney injury resulting from cystinosis with no side effects. " 01/01/2023 - "Genistein therapy represents a potential treatment to improve the outcome for patients with cystinosis." 01/01/2023 - "Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine."
10.	Vitamin D FDA LinkGeneric 12/01/1988 - "Cystinosis and vitamin D." 04/01/1983 - "Circulating vitamin D metabolites in nephropathic cystinosis." 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]."

Therapies and Procedures

1.	Therapeutics 04/01/2017 - "With the dawn of stem cell based therapy and new emerging gene-editing technologies, novel tools have become available in the search for a cure for cystinosis." 11/01/2018 - "Further studies are needed to realize the potential benefits of anti-nitrosative therapies in improving renal function and/or attenuating renal injury in cystinosis." 02/01/2017 - "These studies have also led to the identification of new potential therapeutic targets and here, we outline the potential role of stem cell therapy for cystinosis and provide insights into the mechanism of haematopoietic stem cell-mediated kidney protection." 11/27/2023 - "Our results help in the correct molecular characterization of variants in cystinosis and inform emerging therapies. " 03/01/2023 - "In this review, we describe the path to go from the gene to a gene therapy approach for cystinosis. "
2.	Kidney Transplantation 01/01/2021 - "Nearly every organ system is affected in cystinosis, either from the disease itself or from sequelae of kidney transplantation. " 06/01/2019 - "This is a case report of a thirty-one-year-old patient who already underwent renal transplantation because of nephropathic cystinosis. " 09/01/2017 - "Infantile cystinosis: From dialysis to renal transplantation." 07/25/2015 - "Renal transplantation appears to be safe with excellent long-term outcomes in patients with cystinosis. " 07/25/2015 - "Data of renal transplantation (n = 31) in 30 adult patients with cystinosis in 5 French university transplant centers between 1980 and 2013 were retrospectively analyzed. "
3.	Transplantation 10/10/2019 - "Previous studies of hematopoietic stem and progenitor cell (HSPC) transplantation for the lysosomal storage disorder cystinosis have shown that HSPC-derived macrophages form TNTs to deliver cystinosin-bearing lysosomes to cystinotic cells, leading to tissue preservation. " 01/01/2019 - "Thus, cystinosin cannot be secreted, and yet, we showed that HSPC transplantation can rescue disease phenotype in the mouse model of cystinosis. " 04/01/2016 - "Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model." 11/01/2015 - "We investigated the potential for HSPC transplantation to treat corneal defects in 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. "
4.	Aftercare (After-Treatment) 11/01/1989 - "Nephropathic cystinosis: improved linear growth after treatment with recombinant human growth hormone."
5.	Slit Lamp 01/01/1954 - "[Diagnostic significance of slit lamp studies of the cornea and conjunctiva in infantile cystinosis]." 09/01/2000 - "Therefore, we employed a scoring system, based on a library of slit-lamp photographs of corneas with increasing crystal densities (0.00-3.00), to assess the degree of crystal accumulation in 170 patients with nephropathic cystinosis examined at the National Institutes of Health between 1976 and 2000. " 07/01/1984 - "Role of slit-lamp biomicroscopy in the diagnosis of cystinosis." 10/31/2019 - "The diagnosis of nephropathic cystinosis is generally based on measuring leukocyte cystine level, demonstration of corneal cystine crystals by the slit lamp examination and confirmed by genetic analysis of the CTNS gene. " 12/01/2012 - "Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. "