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Cystinosis

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https://www.readbyqxmd.com/read/27858370/intracranial-hypertension-in-cystinosis-is-a-challenge-experience-in-a-children-s-hospital
#1
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano, Mireia Del Toro, Gema Ariceta
BACKGROUND: Cystinosis is a rare systemic lysosomal disease affecting mainly the kidney and eye. Ocular involvement in cystinosis is universal being the presence of cystine crystals in the cornea a diagnostic criterion and one of the earliest manifestations of the disease. Neuro-ophthalmologic manifestations are considered a rare and late complication in these patients. The aim of this article is to report the unexpectedly high incidence of intracranial hypertension in children with cystinosis at our centre...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27815134/regulation-of-steroid-hormones-and-energy-status-with-cysteamine-and-its-effect-on-spermatogenesis
#2
Yandi Wang, Yong Zhao, Shuai Yu, Yanni Feng, Hongfu Zhang, Xin Kou, Meiqiang Chu, Liantao Cui, Lan Li, Pengfei Zhang, Wei Shen, Lingjiang Min
Although it is well known that cysteamine is a potent chemical for treating many diseases including cystinosis and it has many adverse effects, the effect of cysteamine on spermatogenesis is as yet unknown. Therefore the objective of this investigation was to explore the effects of cysteamine on spermatogenesis and the underlying mechanisms. Sheep were treated with vehicle control, 10mg/kg or 20mg/kg cysteamine for six months. After that, the semen samples were collected to determine the spermatozoa motility by computer-assisted sperm assay method...
December 15, 2016: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/27777912/endocrine-complications-during-and-after-adolescence-in-a-patient-with-cystinosis
#3
Moon Bae Ahn, Sung Eun Kim, Won Kyoung Cho, Min Ho Jung, Byung Kyu Suh
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27771488/preformulation-of-cysteamine-gels-for-treatment-of-the-ophthalmic-complications-in-cystinosis
#4
Barbara McKenzie, Graeme Kay, Kerr H Matthews, Rachel Knott, Donald Cairns
Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all organs. It is treated by regular administration of the aminothiol, cysteamine. Corneal crystal deposition is one of the most troublesome complications affecting patients and requires the hourly administration of cysteamine eye drops. In an attempt to reduce this frequency and improve the treatment, the preformulation and evaluation of cysteamine containing gels is reported. Suitability for ophthalmic delivery was determined by analysis of rheology, bioadhesion, dissolution and stability...
December 30, 2016: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/27738765/orphan-drug-policies-and-use-in-pediatric-nephrology
#5
EDITORIAL
Diana Karpman, Peter Höglund
Orphan drugs designed to treat rare diseases are often overpriced per patient. Novel treatments are sometimes even more expensive for patients with ultra-rare diseases, in part due to the limited number of patients. Pharmaceutical companies that develop a patented life-saving drug are in a position to charge a very high price, which, at best, may enable these companies to further develop drugs for use in rare disease. However, is there a limit to how much a life-saving drug should cost annually per patient? Government interventions and regulations may opt to withhold a life-saving drug solely due to its high price and cost-effectiveness...
January 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27734949/trpv1-dysfunction-in-cystinosis-patients-harboring-the-homozygous-57%C3%A2-kb-deletion
#6
L Buntinx, T Voets, B Morlion, L Vangeel, M Janssen, E Cornelissen, J Vriens, J de Hoon, E Levtchenko
Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS). The most common mutation in cystinosis patients of Northern Europe consists of a 57-kb deletion. This deletion not only inactivates the CTNS gene but also extends into the non-coding region upstream of the start codon of the TRPV1 gene, encoding the capsaicin- and heat-sensitive ion channel TRPV1. To evaluate the consequences of the 57-kb deletion on functional TRPV1 expression, we compared thermal, mechanical and chemical sensitivity of cystinosis patients with matched healthy controls...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27595514/a-coordinated-transition-model-for-patients-with-cystinosis-from-pediatrics-to-adult-care
#7
Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gámez, Judit García-Villoria, Enrique Lara, Pere Leyes, Nieves Martín-Begué, Manel Perelló, Guillem Pintos-Morell, Roser Torra, J Vicens Torregrosa, Sandra Torres-Sierra, Anna Vila-Santandreu, Ana Güell
INTRODUCTION: Improved outcome and longer life-expectancy in patients with cystinosis, and disease complexity itself, justify planning a guided-transition of affected patients from Pediatrics to adult medicine. The aims of the process are to guarantee the continuum of care and patient empowerment, moving from guardian-care to self-care. METHODS: review of articles, expert opinion and anonymous surveys of patients, relatives and patient advocacy groups. RESULTS: elaboration a new document to support and coordinate the transition of patients with cystinosis providing specific proposals in a variety of medical fields, and adherence promotion...
November 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27579165/skeletal-implications-and-management-of-cystinosis-three-case-reports-and-literature-review
#8
REVIEW
Justine Bacchetta, Marcella Greco, Aurélia Bertholet-Thomas, François Nobili, Jozef Zustin, Pierre Cochat, Francesco Emma, Georges Boivin
Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even though the exact underlying pathophysiology is unclear. Four hypotheses are currently discussed to explain such impairment: copper deficiency, bone consequences of severe hypophosphatemic rickets during infancy, cysteamine toxicity and abnormal thyroid metabolism...
2016: BoneKEy Reports
https://www.readbyqxmd.com/read/27571217/synergistic-cysteamine-delivery-nanowafer-as-an-efficacious-treatment-modality-for-corneal-cystinosis
#9
Daniela C Marcano, Crystal S Shin, Briana Lee, Lucas C Isenhart, Xing Liu, Feng Li, James V Jester, Stephen C Pflugfelder, Jennifer Simpson, Ghanashyam Acharya
A synergy between the polymer biomaterial and drug plays an important role in enhancing the therapeutic efficacy, improving the drug stability, and minimizing the local immune responses in the development of drug delivery systems. Particularly, in the case of ocular drug delivery, the need for the development of synergistic drug delivery system becomes more pronounced because of the wet ocular mucosal surface and highly innervated cornea, which elicit a strong inflammatory response to the instilled drug formulations...
October 3, 2016: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/27536690/autophagy-in-chronic-kidney-diseases
#10
REVIEW
Na Liu, Yingfeng Shi, Shougang Zhuang
BACKGROUND: Autophagy is the degrading process of protein and organelles mediated by lysosomes. This process is involved in purging senescent organelles and subversive proteins while maintaining the stability of the intracellular environment. This phenomenon is highly conservative, existing in nearly every species, and is involved in cell growth, proliferation and tumorigenesis. SUMMARY: In recent decades, with the discovery of autophagy-related genes and proteins in conjunction with the improvement in detection methods, the study of autophagy is constantly achieving new breakthroughs...
April 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27493869/muscle-wasting-and-adipose-tissue-browning-in-infantile-nephropathic-cystinosis
#11
Wai W Cheung, Stephanie Cherqui, Wei Ding, Mary Esparza, Ping Zhou, Jianhua Shao, Richard L Lieber, Robert H Mak
BACKGROUND: Muscle wasting is a common complication in patients with infantile nephropathic cystinosis, but its mechanism and association with energy metabolism is not known. We define the metabolic phenotype in Ctns(-/-) mice, an established murine model of infantile nephropathic cystinosis, with focus on muscle wasting and energy homeostasis. METHODS: Male Ctns(-/-) mice and wild-type (WT) controls were studied at 1, 4, 9, and 12 months of age. As Ctns(-/-) mice started to develop chronic kidney disease (CKD) at 9 months of age, 9- and 12-month-old Ctns(-/-) mice were also compared with age-matched WT mice with CKD...
May 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27451386/ca-2-signalling-in-human-proximal-tubular-epithelial-cells-deficient-for-cystinosin
#12
Ekaterina A Ivanova, Mohamed A Elmonem, Inge Bongaerts, Tomas Luyten, Ludwig Missiaen, Lambertus P van den Heuvel, Elena N Levtchenko, Geert Bultynck
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder caused by loss-of-function mutations in the CTNS gene coding for the lysosomal cystine transporter, cystinosin. Recent studies have demonstrated that, apart from cystine accumulation in the lysosomes, cystinosin-deficient cells, especially renal proximal tubular epithelial cells are characterized by abnormal vesicle trafficking and endocytosis, possible lysosomal dysfunction and perturbed intracellular signalling cascades. It is therefore possible that Ca(2+) signalling is disturbed in cystinosis, as it has been demonstrated for other disorders associated with lysosomal dysfunction, such as Gaucher, Niemann-Pick type C and Alzheimer's diseases...
October 2016: Cell Calcium
https://www.readbyqxmd.com/read/27395395/effect-of-ph-and-penetration-enhancers-on-cysteamine-stability-and-trans-corneal-transport
#13
Silvia Pescina, Federica Carra, Cristina Padula, Patrizia Santi, Sara Nicoli
Ocular cystinosis is a rare metabolic disorder characterized by the presence of insoluble cystine crystals inside the corneal stroma, with consequent photophobia, keratopathies and frequent corneal erosions. The current therapy consists in the lifetime ophthalmic administration of cysteamine, drug characterized by extremely high hydrophilicity, low molecular weight (77g/mol), and easy oxidization to disulfide. Ocular delivery of cysteamine is very challenging, for its poor permeability and stability in solution...
October 2016: European Journal of Pharmaceutics and Biopharmaceutics
https://www.readbyqxmd.com/read/27350621/switching-from-immediate-to-extended-release-cysteamine-in-nephropathic-cystinosis-patients-a-retrospective-real-life-single-center-study
#14
Thurid Ahlenstiel-Grunow, Nele K Kanzelmeyer, Kerstin Froede, Martin Kreuzer, Jens Drube, Christian Lerch, Lars Pape
BACKGROUND: Nephropathic cystinosis is a rare lysosomal storage disease which is characterized by the accumulation of free cystine in lysosomes and subsequent intracellular crystal formation of cystine throughout the body. If not treated with cysteamine, a cystine-depleting agent, end-stage renal disease will develop early, followed by multiple organ failure as the disease progresses. The established cysteamine formulation requires a strict dosing regimen at 6-h intervals. An extended release (ER) twice-daily formulation has recently been developed...
June 27, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27269891/cystinosis-in-eastern-turkey
#15
Murat Doğan, Keziban Bulan, Sultan Kaba, Yaşar Cesur, Serdar Ceylaner, Lokman Ustyol
BACKGROUND: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. METHODS: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. RESULTS: Eleven patients (age range: 1...
August 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27215258/infantile-nephropathic-cystinosis-with-incomplete-fanconi-syndrome-hypothyroidism-hydro-uretero-nephrosis-and-megacystis
#16
Vaishali More, Preeti Shanbag
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a half-year-old Indian boy with infantile nephropathic cystinosis that presented with the incomplete Fanconi syndrome, hydro-uretero-nephrosis with megacystis, and hypothyroidism.
May 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27181776/controversies-and-research-agenda-in-nephropathic-cystinosis-conclusions-from-a-kidney-disease-improving-global-outcomes-kdigo-controversies-conference
#17
Craig B Langman, Bruce A Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Graham Lipkin, Julian P Midgley, Chris Ottolenghi, Aude Servais, Neveen A Soliman, Jess G Thoene, Elena N Levtchenko
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-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care...
June 2016: Kidney International
https://www.readbyqxmd.com/read/27153825/an-open-label-investigation-of-the-pharmacokinetics-and-tolerability-of-oral-cysteamine-in-adults-with-cystic-fibrosis
#18
Graham Devereux, Sandra Steele, Kairen Griffiths, Edward Devlin, Douglas Fraser-Pitt, Seonaidh Cotton, John Norrie, Henry Chrystyn, Deborah O'Neil
BACKGROUND AND OBJECTIVE: Cysteamine is licensed for use in nephropathic cystinosis but preclinical data suggest a role in managing cystic fibrosis (CF). This study aimed to determine whether oral cysteamine is absorbed in adult CF patients and enters the bronchial secretions. Tolerability outcomes were also explored. METHODS: Patients ≥18 years of age, weighing >50 kg with stable CF lung disease were commenced on oral cysteamine bitartrate (Cystagon(®)) 450 mg once daily, increased weekly to 450 mg four times daily...
August 2016: Clinical Drug Investigation
https://www.readbyqxmd.com/read/27150250/cysteamine-broadly-improves-the-anti-plasmodial-activity-of-artemisinins-against-murine-blood-stage-and-cerebral-malaria
#19
Neda Moradin, Sabrina Torre, Susan Gauthier, Mifong Tam, Jalal Hawari, Kirsten Vandercruyssen, Bart De Spiegeleer, Anny Fortin, Mary M Stevenson, Philippe Gros
BACKGROUND: The potential emergence and spread of resistance to artemisinins in the Plasmodium falciparum malaria parasite constitutes a major global health threat. Hence, improving the efficacy of artemisinins and of artemisinin-based combination therapy (ACT) represents a major short-term goal in the global fight against malaria. Mice defective in the enzyme pantetheinase (Vnn3) show increased susceptibility to blood-stage malaria (increased parasitaemia, reduced survival), and supplementation of Vnn3 mutants with the reaction product of pantetheinase, cysteamine, corrects in part the malaria-susceptibility phenotype of the mutants...
2016: Malaria Journal
https://www.readbyqxmd.com/read/27148969/carboxyl-terminal-sslkg-motif-of-the-human-cystinosin-lkg-plays-an-important-role-in-plasma-membrane-sorting
#20
Francesco Bellomo, Anna Taranta, Stefania Petrini, Rossella Venditti, Maria Teresa Rocchetti, Laura Rita Rega, Serena Corallini, Loreto Gesualdo, Maria Antonietta De Matteis, Francesco Emma
Cystinosin mediates an ATP-dependent cystine efflux from lysosomes and causes, if mutated, nephropathic cystinosis, a rare inherited lysosomal storage disease. Alternative splicing of the last exon of the cystinosin sequence produces the cystinosin-LKG isoform that is characterized by a different C-terminal region causing changes in the subcellular distribution of the protein. We have constructed RFP-tagged proteins and demonstrated by site-directed mutagenesis that the carboxyl-terminal SSLKG sequence of cystinosin-LKG is an important sorting motif that is required for efficient targeting the protein to the plasma membrane, where it can mediate H+ coupled cystine transport...
2016: PloS One
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