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Nephropathic cystinosis

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https://www.readbyqxmd.com/read/27771488/preformulation-of-cysteamine-gels-for-treatment-of-the-ophthalmic-complications-in-cystinosis
#1
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/27579165/skeletal-implications-and-management-of-cystinosis-three-case-reports-and-literature-review
#2
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/27536690/autophagy-in-chronic-kidney-diseases
#3
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
#4
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
#5
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/27350621/switching-from-immediate-to-extended-release-cysteamine-in-nephropathic-cystinosis-patients-a-retrospective-real-life-single-center-study
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/26994576/activation-of-the-transcription-factor-eb-rescues-lysosomal-abnormalities-in-cystinotic-kidney-cells
#13
Laura R Rega, Elena Polishchuk, Sandro Montefusco, Gennaro Napolitano, Giulia Tozzi, Jinzhong Zhang, Francesco Bellomo, Anna Taranta, Anna Pastore, Roman Polishchuk, Fiorella Piemonte, Diego L Medina, Sergio D Catz, Andrea Ballabio, Francesco Emma
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease characterized by accumulation of cystine into lysosomes secondary to mutations in the cystine lysosomal transporter, cystinosin. The defect initially causes proximal tubular dysfunction (Fanconi syndrome) which in time progresses to end-stage renal disease. Cystinotic patients treated with the cystine-depleting agent, cysteamine, have improved life expectancy, delayed progression to chronic renal failure, but persistence of Fanconi syndrome...
April 2016: Kidney International
https://www.readbyqxmd.com/read/26909499/altered-mtor-signalling-in-nephropathic-cystinosis
#14
Ekaterina A Ivanova, Lambertus P van den Heuvel, Mohamed A Elmonem, Humbert De Smedt, Ludwig Missiaen, Anna Pastore, Djalila Mekahli, Greet Bultynck, Elena N Levtchenko
Lysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of autophagy markers has been previously demonstrated. Cystinosis is caused by mutations in the lysosomal cystine transporter cystinosin and initially affects kidney proximal tubules causing renal Fanconi syndrome, followed by a gradual development of end-stage renal disease and extrarenal complications...
May 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/26830282/lysosomal-storage-disorders-in-egyptian-children
#15
Mohamed A Elmonem, Iman G Mahmoud, Dina A Mehaney, Sahar A Sharaf, Sawsan A Hassan, Azza Orabi, Fadia Salem, Marian Y Girgis, Amira El-Badawy, Magy Abdelwahab, Zeinab Salah, Neveen A Soliman, Fayza A Hassan, Laila A Selim
OBJECTIVE: To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt. METHODS: The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically...
August 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/26774926/synthesis-of-diacylated-%C3%AE-glutamyl-cysteamine-prodrugs-and-in%C3%A2-vitro-evaluation-of-their-cytotoxicity-and-intracellular-delivery-of-cysteamine
#16
Lisa Frost, Pratap Suryadevara, Stephanie J Cannell, Paul W Groundwater, Paul A Hambleton, Rosaleen J Anderson
To overcome the major disadvantages of cysteamine, the only registered treatment for the rare genetic disease cystinosis, nine prodrugs of γ-glutamyl-cysteamine (4) were synthesized for evaluation. Esterification of the thiol conferred oxidative stability, while sufficient lipophilicity for oral bioavailability was achieved by acylation of the α-carboxyl group of γ-glutamyl-cysteamine (4). Low cytotoxicity was observed in cultured HaCaT keratinocytes using the MTT assay, with EC50 values higher than or similar to that of cysteamine...
February 15, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/26655004/a-case-of-corneal-cystinosis-in-a-patient-with-rickets-and-chronic-renal-failure
#17
Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung
A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on observing the typical crystals. Optical coherence tomography showed multiple areas of stromal hyperreflectivity due to crystal deposits within the corneal stroma. Ex vivo transmission electron microscopy of the cornea showed pathognomonic crystal deposits in corneal stromal keratocytes...
October 2015: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/26580242/the-value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#18
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is a rare autosomal recessive disorder and the most common cause of inherited renal Fanconi syndrome in young children. Renal biopsy is usually not necessary to establish the diagnosis, but when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. We describe here renal biopsy findings in a patient with cystinosis. A 20-month-old male presented with failure to thrive, polyuria, polydipsia and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency and nephrogenic diabetes insipidus...
November 18, 2015: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26565940/molecular-analysis-of-the-ctns-gene-in-jordanian-families-with-nephropathic-cystinosis
#19
Saied Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis
OBJECTIVE: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis. METHODS: Probands initially presented with Fanconi syndrome symptoms...
November 2015: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/26477696/cysteamine-in-renal-transplantation-a-report-of-two-patients-with-nephropathic-cystinosis-and-the-successful-re-initiation-of-cysteamine-therapy-during-the-immediate-post-transplant-period
#20
Allison Berryhill, Suvarna Bhamre, Abanti Chaudhuri, Waldo Concepcion, Paul C Grimm
Nephropathic cystinosis is a rare disorder causing the accumulation of intracellular cystine crystals in tissues. The damage to the proximal tubules of the kidneys results in Fanconi syndrome, and patients with cystinosis experience the progression of chronic kidney disease, resulting in the need for kidney transplantation. Treatment of cystinosis with cysteamine has proven to be effective; however, it has many gastrointestinal side effects that are concerning for transplant specialists during the immediate post-transplant period...
February 2016: Pediatric Transplantation
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