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Letteratura scientifica selezionata sul tema "Cystinuria"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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Articoli di riviste sul tema "Cystinuria"

1

Kovaříková, Simona, Petr Maršálek, Jana Blahová, Jaroslav Kučera, Kateřina Vrbová, and Vladimír Večerek. "Assessment of urinary cystine concentration in dogs in the Czech Republic." Acta Veterinaria Brno 92, no. 4 (2023): 351–59. http://dx.doi.org/10.2754/avb202392040351.

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Abstract (sommario):

The prevalence of cystinuria as an inborn error of metabolism in dogs is unknown. The purpose of this study was to evaluate the prevalence of cystinuria in dogs of various breeds in the Czech Republic. In total, 326 voided urine samples from client owned dogs were obtained. Samples were divided into four groups according to the breed - Irish Terriers (n = 58), Dachshunds (n = 67), French Bulldogs (n = 64) and a group of various breeds (n = 137). Urinary cystine concentration was measured using liquid chromatography/mass spectrometry, urinary creatinine concentration was determined by Jaffe met

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2

Kovaříková, Simona, Petr Maršálek, and Kateřina Vrbová. "Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?" Animals 11, no. 8 (2021): 2437. http://dx.doi.org/10.3390/ani11082437.

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Abstract (sommario):

The purpose of this review is to summarize current knowledge on canine and feline cystinuria from available scientific reports. Cystinuria is an inherited metabolic defect characterized by abnormal intestinal and renal amino acid transport in which cystine and the dibasic amino acids ornithine, lysine, and arginine are involved (COLA). At a normal urine pH, ornithine, lysine, and arginine are soluble, but cysteine forms a dimer, cystine, which is relatively insoluble, resulting in crystal precipitation. Mutations in genes coding COLA transporter and the mode of inheritance were identified only

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3

Font-Llitjós, Mariona, Lídia Feliubadaló, Meritxell Espino, et al. "Slc7a9knockout mouse is a good cystinuria model for antilithiasic pharmacological studies." American Journal of Physiology-Renal Physiology 293, no. 3 (2007): F732—F740. http://dx.doi.org/10.1152/ajprenal.00121.2007.

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Abstract (sommario):

Cystinuria is a hereditary disorder caused by a defect in the apical membrane transport system for cystine and dibasic amino acids in renal proximal tubules and intestine, resulting in recurrent urolithiasis. Mutations in SLC3A1 and SLC7A9 genes, that codify for rBAT/b0,+AT transporter subunits, cause type A and B cystinuria, respectively. In humans, cystinuria treatment is based on the prevention of calculi formation and its dissolution or breakage. Persistent calculi are treated with thiols [i.e., d-penicillamine (DP) and mercaptopropionylglycine (MPG)] for cystine solubilization. We have de

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4

Casal, Margret L., Urs Giger, K. C. Bovee, and D. F. Patterson. "Inheritance of cystinuria and renal defect in Newfoundlands." Journal of the American Veterinary Medical Association 207, no. 12 (1995): 1585–89. http://dx.doi.org/10.2460/javma.1995.207.12.1585.

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Objective To describe clinical features, characterize metabolic renal abnormalities, and evaluate mode of inheritance of cystinuria in Newfoundlands. Design Prospective study. Animals Two families of Newfoundlands including 11 dogs with dysuria, stranguria, or obstruction attributable to cystine calculi. Procedure Urinalysis and nitroprusside spot tests were performed to evaluate cystinuria in the affected dogs. All calculi were analyzed by crystallography. Amino acid concentrations in urine and plasma of affected dogs were compared with those in clinically normal related dogs. Renal fractiona

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5

Döven, Serra Sürmeli, Ali Delibaş, Hakan Taşkınlar, and Ali Naycı. "The impact of surgical intervention on renal function in cystinuria." Brazilian Journal of Nephrology 40, no. 3 (2018): 256–60. http://dx.doi.org/10.1590/2175-8239-jbn-2018-0034.

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ABSTRACT Introduction: Cystinuria is an autosomal recessive disorder due to intestinal and renal transport defects in cystine and dibasic amino acids, which result in recurrent urolithiasis and surgical interventions. This study aimed to assess the impact of surgical interventions on renal function by analyzing estimated glomerular filtration rates. Methods: Thirteen pediatric patients with cystinuria, who were followed-up in a single tertiary institution between 2004 and 2016, were included in the study. Medical records were reviewed to collect data on clinical presentation of patients, urine

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6

Feld, Ronald D., and Zakariya K. Shihabi. "Cystinuria." CRC Critical Reviews in Clinical Laboratory Sciences 26, no. 3 (1988): 243–61. http://dx.doi.org/10.3109/10408368809105891.

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7

Strologo, Luca Dello, and Gianfranco Rizzoni. "Cystinuria." Acta Paediatrica 95 (July 1, 2006): 31–33. http://dx.doi.org/10.1080/08035320600649473.

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8

Strologo, Luca Dello, and Gianfranco Rizzoni. "Cystinuria." Acta Paediatrica 95 (January 2, 2007): 31–33. http://dx.doi.org/10.1111/j.1651-2227.2006.tb02412.x.

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9

Milliner, D. S. "Cystinuria." Endocrinology and Metabolism Clinics of North America 19, no. 4 (1990): 889–907. http://dx.doi.org/10.1016/s0889-8529(18)30299-8.

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10

Mattoo, Aditya, and David S. Goldfarb. "Cystinuria." Seminars in Nephrology 28, no. 2 (2008): 181–91. http://dx.doi.org/10.1016/j.semnephrol.2008.01.011.

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Tesi sul tema "Cystinuria"

1

Harnevik, Lotta. "Molecular genetic studies on cystinuria." Doctoral thesis, Linköping : Univ, 2007. http://www.bibl.liu.se/liupubl/disp/disp2007/med1034s.pdf.

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2

Fjellstedt, Erik. "Clinical and genetic studies on patients with cystinuria /." Linköping : Univ, 2003. http://www.bibl.liu.se/liupubl/disp/disp2003/med817s.pdf.

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3

Rhodes, Hannah Lucinda. "Genetic analysis and in vitro models of cystinuria." Thesis, University of Bristol, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.738194.

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4

Wong, Kathie. "The diagnosis, genetics and management of patients with cystinuria." Thesis, King's College London (University of London), 2018. https://kclpure.kcl.ac.uk/portal/en/theses/the-diagnosis-genetics-and-management-of-patients-with-cystinuria(b215085c-f9c7-44d9-8858-856a8fdf9a05).html.

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Abstract (sommario):

Cystinuria is a genetic disease leading a defective dibasic amino acid transporter in the renal proximal tubules resulting in an accumulation of urinary cystine. Urinary cystine precipitates into crystals which is believed to be a necessary step to stone formation. There is a wide variation in disease presentation that is not well understood and cannot be explained by either compliance with medical and dietary interventions, or differences in patient management. Predicting disease severity and managing patients expectantly is confounded by a paucity of validated methods to monitor disease acti

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5

Saadi, Irfan. "Characterization of the SLC3A1 (D2H) gene and mutation analysis of cystinuria patients in Québec." Thesis, McGill University, 1997. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=20283.

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Abstract (sommario):

Cystinuria is an autosomal recessive disorder of the kidneys and intestine with defective luminal transport of cystine and other dibasic amino acids (ornithine, arginine, and lysine). Three phenotypes have been described, based on urinary excretion of these amino acids in obligate heterozygotes: Type I (silent carriers); Type II (moderate elevation); and Type III (mild elevation). The SLC3AI (D2H) protein has been shown to enhance cystine reabsorption and mutations in D2H have been reported in cystinuria. The aims of this study were to characterize D2H gene structure and to identify mutations

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6

Rius, Radrigales Mònica. "Oxidative folding and early traffic of the human cystinuria transporter." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/284547.

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Abstract (sommario):

The aim of this work is to gain insight in the understanding of the biogenesis of membrane proteins, specially their folding, assembly and ER-exit. Our model is the human cystinuria transporter rBAT- b0,+AT. Disulfides and N-glycans are crucial for the correct folding, assembly and traffic of proteins. So we identified the disulfides and the N-glycans of the transporter and analysed their role in biogenesis of the transporter. In order to analyse the disulfide connectivity of rBAT, cysteine residues were mutated to serine, and we used mass-tagging of sulfhydryl (-SH) groups with mPEG5000-m

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7

Livrozet, Marine. "Lithiase rénale : de la génétique à la bactérie." Electronic Thesis or Diss., Paris 6, 2017. http://www.theses.fr/2017PA066633.

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Abstract (sommario):

La lithiase rénale touche environ 10% de la population dans les pays industrialisés. 75% des calculs sont composés majoritairement d'oxalate de calcium; 10% sont composés de phosphate de calcium, 9% d'acide urique, 5% de struvite et moins de 1% de cystine. La composition des calculs dépend des espèces sursaturées dans les urines. Dans la première partie de ma thèse, je décris un modèle murin de cystinurie de type A lié à une mutation spontanée apparue dans la souche de souris 129S2/SvPasCrl. La cystinurie est une maladie autosomique récessive responsable de 7% des lithiases de l'enfant. Les ca

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8

Saadi, Irfan. "Characterization of the SLC3A1 (D2H) gene and mutation analysis of cystinuria patients in Quebec." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0002/MQ44265.pdf.

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9

Childs-Sanford, Sara E. "The captive maned wolf (Chrysocyon brachyurus) nutritional considerations with emphasis on management of cystinuria /." College Park, Md. : University of Maryland, 2005. http://hdl.handle.net/1903/2520.

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Abstract (sommario):

Thesis (M.S.) -- University of Maryland, College Park, 2005.<br>Thesis research directed by: Dept. of Animal and Avian Sciences. Title from t.p. of PDF. Includes bibliographical references. Published by UMI Dissertation Services, Ann Arbor, Mich. Also available in paper.

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10

Livrozet, Marine. "Lithiase rénale : de la génétique à la bactérie." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066633.

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Abstract (sommario):

La lithiase rénale touche environ 10% de la population dans les pays industrialisés. 75% des calculs sont composés majoritairement d'oxalate de calcium; 10% sont composés de phosphate de calcium, 9% d'acide urique, 5% de struvite et moins de 1% de cystine. La composition des calculs dépend des espèces sursaturées dans les urines. Dans la première partie de ma thèse, je décris un modèle murin de cystinurie de type A lié à une mutation spontanée apparue dans la souche de souris 129S2/SvPasCrl. La cystinurie est une maladie autosomique récessive responsable de 7% des lithiases de l'enfant. Les ca

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Libri sul tema "Cystinuria"

1

Hoppe, Astrid. Cystinuria in the dog: With special reference to treatment with 2-mercaptopropionylglycine (Thiola R). Sveriges Lantbruksuniversitet, 1992.

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2

Parker, James N., and Philip M. Parker. Cystinuria: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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3

Servais, Aude, and Bertrand Knebelmann. Cystinuria. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0024.

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Abstract (sommario):

Cystinuria (OMIM #220100) is an autosomal recessive disorder of a dibasic amino acid transport in the apical membrane of epithelial cells of the renal proximal tubule and small intestine. It leads to increased urinary cystine excretion and recurrent urolithiasis. The cystine transporter is an heterodimeric transporter which is composed of a heavy subunit, rBAT, linked to a light subunit, b0,+AT. Two genes, SLC3A1 (solute carrier family 3 member 1) and SLC7A9, coding for rBAT and b0,+AT, account for the genetic basis of cystinuria. Cystinuria may lead to obstruction, infections, and ultimately

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4

Sinnott, Bridget, Naim M. Maalouf, Khashayar Sakhaee, and Orson W. Moe. Medical management of nephrocalcinosis and nephrolithiasis. Edited by Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0205_update_001.

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Conditions associated with nephrocalcinosis and nephrolithiasis are described. Some (cystinuria, urate) have specific therapies, and there are some general measure, particular for calcium-containing stones (urine volume, dietary salt, urinary citrate, thiazide diuretics). In the absence of a primary aetiology, urinary biochemical predisposing factors can be manipulated. Properly directed medical therapy is highly effective in preventing recurrence.

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5

Pharmacological treatment of endocrinopathies: Bone disease, kidney stones, and related disorders. Karger, 1991.

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6

Levtchenko, Elena N., and Mirian C. Janssen. Cystinosis. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0339_update_001.

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Abstract (sommario):

Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder. It must be distinguished from cystinuria in which formation of cystine stones is the core problem. When left untreated, kidney dysfunction gradually progresses towards end-stage renal failure during the first 10 years of life. The advent of renal replacement therapy a

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7

Montag, Christine. Über die Beeinflussung der Cystinausscheidung durch Veränderung der Eiweisszufuhr bei Kindern mit Cystinurie. 1995.

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Daudon, Michel, and Paul Jungers. Cystine stones. Edited by Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0203_update_001.

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Abstract (sommario):

Cystinuria, an autosomal recessive disease (estimated at 1:7000 births worldwide), results from the defective reabsorption of cystine and dibasic amino acids (also ornithine, arginine, lysine, COAL) by epithelial cells of renal proximal tubules, leading to an abnormally high urinary excretion of these amino acids. Due to the poor solubility of cystine at the usual urine pH, formation of cystine crystals and stones ensues. Incidence of homozygotes is estimated at 1 in 7000 births worldwide, but is lower in European countries and much higher in populations with frequent consanguinity. Cystine st

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Capitoli di libri sul tema "Cystinuria"

1

Gagnadoux, M. F. "Cystinuria." In Inborn Metabolic Diseases. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-02613-7_42.

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2

Baum, Michelle A. "Cystinuria." In Pocket Guide to Kidney Stone Prevention. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-11098-1_11.

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3

Rodger, R. S. C. "Cystinuria." In Calculus Disease. Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-2617-2_4.

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4

Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Cystinuria." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_445.

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5

Jessen, Jan Peter, and Thomas Knoll. "Management of Cystinuria." In Urolithiasis. Springer London, 2012. http://dx.doi.org/10.1007/978-1-4471-4387-1_92.

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6

Niknan, Zeinab, and Shaghayegh Khanmohammadi. "Hypotonia-Cystinuria Syndrome." In Genetic Syndromes. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-66816-1_1833-1.

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7

Krombach, Patrick, Gunnar Wendt-Nordahl, and Thomas Knoll. "Cystinuria and Cystine Stones." In Urinary Tract Stone Disease. Springer London, 2010. http://dx.doi.org/10.1007/978-1-84800-362-0_17.

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8

Pierides, A. M., and C. C. Deltas. "Clinical Aspects of Cystinuria." In Hereditary Kidney Diseases. KARGER, 1997. http://dx.doi.org/10.1159/000059895.

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9

Sumorok, Nicola T., and David S. Goldfarb. "Cystinuria: Assessing and Managing Risk." In Practical Controversies in Medical Management of Stone Disease. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-9575-8_8.

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10

Koide, T., M. Utsunomiya, S. Yamaguchi, and T. Yoshioka. "A New Therapeutic Agent for Cystinuria." In Urolithiasis 2. Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2556-1_228.

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Atti di convegni sul tema "Cystinuria"

1

Florio, L. Di, V. Verrotti di Pianella, A. Lanzano, et al. "P87 A case of cystinuria." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.175.

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