Thematische Bibliographien / Cystinuria

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  2. Dissertationen
  3. Bücher
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  5. Konferenzberichte

Auswahl der wissenschaftlichen Literatur zum Thema „Cystinuria“

Autor: Grafiati
Veröffentlicht am 4. Juni 2021
Zuletzt aktualisiert am 24. Januar 2023

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Zeitschriftenartikel zum Thema "Cystinuria"

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Kovaříková, Simona, Petr Maršálek und Kateřina Vrbová. „Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?“ Animals 11, Nr. 8 (19.08.2021): 2437. http://dx.doi.org/10.3390/ani11082437.

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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 in some canine breeds. Cystinuric dogs may form uroliths (mostly in lower urinary tract) which are associated with typical clinical symptoms. The prevalence of cystine urolithiasis is much higher in European countries (up to 14% according to the recent reports) when compared to North America (United States and Canada) where it is approximately 1–3%. Cystinuria may be diagnosed by the detection of cystine urolithiasis, cystine crystalluria, assessment of amino aciduria, or using genetic tests. The management of cystinuria is aimed at urolith removal or dissolution which may be reached by dietary changes or medical treatment. In dogs with androgen-dependent cystinuria, castration will help. In cats, cystinuria occurs less frequently in comparison with dogs.
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Font-Llitjós, Mariona, Lídia Feliubadaló, Meritxell Espino, Ramon Clèries, Sandra Mañas, Isabelle M. Frey, Sara Puertas et al. „Slc7a9knockout mouse is a good cystinuria model for antilithiasic pharmacological studies“. American Journal of Physiology-Renal Physiology 293, Nr. 3 (September 2007): F732—F740. http://dx.doi.org/10.1152/ajprenal.00121.2007.

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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 developed a new protocol with DP to validate our Slc7a9 knockout mouse model for the study of the therapeutic effect of drugs in the treatment of cystine lithiasis. We performed a 5-wk treatment of individually caged lithiasic mutant mice with a previously tested DP dose. To appraise the evolution of lithiasis throughout the treatment a noninvasive indirect method of calculi quantification was developed: calculi mass was quantified by densitometry of X-ray images from cystinuric mice before and after treatment. Urine was collected in metabolic cage experiments to quantify amino acids in DP-treated and nontreated, nonlithiasic mutant mice. We found significant differences between DP-treated and nontreated knockout mice in calculi size and in urinary cystine excretion. Histopathological analysis showed that globally nontreated mutant mice had more severe and diffuse urinary system damage than DP-treated mice. Our results validate the use of this mouse model for testing the efficacy of potential new drugs against cystinuria.
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Döven, Serra Sürmeli, Ali Delibaş, Hakan Taşkınlar und Ali Naycı. „The impact of surgical intervention on renal function in cystinuria“. Brazilian Journal of Nephrology 40, Nr. 3 (21.06.2018): 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 parameters, stone formation, medical treatment, surgical intervention, stone recurrence after surgical procedure, stone analysis, ultrasonography, 99m-technetium dimercaptosuccinic acid (99mTc-DMSA) radionuclide imaging results, and follow-up time. Creatinine clearances estimated by modified Schwartz (eGFR) formula before and after surgery were used to assess renal function and compared statistically. Results: Nine patients (69.2%) had renal scarring which were detected with 99mTc-DMSA radionuclide imaging. In ten patients (76.9%), open surgical intervention for stones were needed during follow-up. Significant difference was not detected between eGFR before and after surgical intervention (mean 92 versus 106, p = 0.36). Nine of the patients (69.2%) were stone free in the last ultrasonographic examination. Relapses of stone after surgery were seen in 66.6% of patients who underwent surgical intervention. Conclusions: Surgical interventions for urinary stones are commonly required in patients with cystinuria. Renal scarring is a prevalent finding in cystinuric patients. Surgical interventions have no negative impact on eGFR in patients with cystinuria according to the present study.
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Feld, Ronald D., und Zakariya K. Shihabi. „Cystinuria“. CRC Critical Reviews in Clinical Laboratory Sciences 26, Nr. 3 (Januar 1988): 243–61. http://dx.doi.org/10.3109/10408368809105891.

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Strologo, Luca Dello, und Gianfranco Rizzoni. „Cystinuria“. Acta Paediatrica 95 (01.07.2006): 31–33. http://dx.doi.org/10.1080/08035320600649473.

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Strologo, Luca Dello, und Gianfranco Rizzoni. „Cystinuria“. Acta Paediatrica 95 (02.01.2007): 31–33. http://dx.doi.org/10.1111/j.1651-2227.2006.tb02412.x.

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7

Milliner, D. S. „Cystinuria“. Endocrinology and Metabolism Clinics of North America 19, Nr. 4 (Dezember 1990): 889–907. http://dx.doi.org/10.1016/s0889-8529(18)30299-8.

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Mattoo, Aditya, und David S. Goldfarb. „Cystinuria“. Seminars in Nephrology 28, Nr. 2 (März 2008): 181–91. http://dx.doi.org/10.1016/j.semnephrol.2008.01.011.

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Scrivner, C. R. „Cystinuria“. Journal of Urology 137, Nr. 5 (Mai 1987): 1069–70. http://dx.doi.org/10.1016/s0022-5347(17)44383-7.

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Scriver, Charles R. „Cystinuria“. New England Journal of Medicine 315, Nr. 18 (30.10.1986): 1155–57. http://dx.doi.org/10.1056/nejm198610303151808.

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Dissertationen zum Thema "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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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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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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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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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 activity and heterogeneity in how urinary dibasic amino acid levels are measured and reported in literature. Management of this disease is largely preventative and based on historical data. At Guy’s and St Thomas’, a clinic was set up to allow for a multidisciplinary approach to the management of these patients. It also provided a premise for research into patients with this disease. The objective of my research was threefold; to understand the factors that lead to severe disease, to investigate clinical markers of disease activity, and to understand the genetic mutations that cause the disease. This thesis is divided into seven chapters incorporating five supporting publications. Chapter one details what is already known on the subject. The evidence for dietary recommendations, current medical therapy and treatments are discussed. Chapter two describes the challenges to the clinician in the management of this disease. The basis of the specialist multidisciplinary clinic is outlined, the roles of each team member and the geographic distribution of our patient cohort. Chapter three investigates the utility of dibasic amino acids in the management of cystinuria in particular, the association between urinary dibasic amino acids levels and stone formation. Dr Caroline Pardy and Dr Erin Mozley contributed significantly to this chapter. Spot urine samples were collected at the time of each clinic visit. The levels of the urinary dibasic amino acids and the association with stone formation as evaluated by ultrasound were analysed. There was a statistically significant association between the levels of urinary ornithine and the presence of stones seen on ultrasound scan. However, as current cystinuria medications aim at reducing cystine levels only with no known effects on levels of urinary ornithine, the prognostic value of this remains uncertain. Chapter four describes original research on the diagnostic value of crystalluria. Separate early morning and clinic urine were collected at each clinic visit and the association between presence of crystals and presence of stones and new stone growth were analysed. Malassez counting chamber and conventional cytospin methods were also compared. The results demonstrated that the presence of crystals in patients with cystinuria is associated with stone formation and new stone growth when based on clinic urine using cytospin method. This may serve as a useful adjunct rather than as a single diagnostic tool. For the first time, the genetic mutations found in a UK population are characterized and described in chapter five. Dr Rachael Mein contributed significantly to this work. We found 23 new mutations in our UK population. We have found that in patients with mutations in SLC3A1, the presence of a missense mutation leads to lower levels of urinary lysine, ornithine and arginine. This is the first time such a genotype-phenotype association has been found and has the potential to improve our risk stratification of patients at the time of diagnosis and tailor their subsequent follow up. This association was not seen for cystine levels however there are limitations in current cystine assays that may account for this and is further discussed in the chapter. In chapter six, the use of protein modelling to model the two proteins encoded by SLC3A1 and SLC7A9 and the mutations that lead to protein dysfunction is described. The severity of the mutations in SLC7A9 as determined by the proximity of the mutation to the ligand binding sites and size of conformational change is shown to lead to a more severe biochemical phenotype as evidenced by raised levels of urinary dibasic amino acids. Further work in this area has the potential to lead to a personalized approach to the management of this disease. Finally, chapter seven summarises all the research findings, discusses the implications to current practice and future challenges in the management of these patients.
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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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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 in Quebec patients.
The D2H cDNA was used to isolate five genomic clones and to characterize the entire gene. The gene spans over 40 kb and contains 10 exons. SSCP and Southern blotting techniques were successful in identifying six novel mutations (2 large deletions, 3 missense mutations, and one 2bp deletion) in twenty cystinuric patients (8 Type I/I, 9 Type I/III, and 3 Type II/N).
Our group has identified mutations in the SLC3A1 gene on 15 of 25 cystinuria chromosomes. All but one of these mutations have been found on patients with Type I/I phenotype (the remaining mutation was identified on a Type I/III patient). These studies have revealed eight mutations unique to Quebec and indicate population-specificity and genetic heterogeneity. Furthermore, SLC3A1 mutations only account for Type I cystinuria. However, since only 1 SLC3A1 mutation was identified in 9 Type I/III patients, the data suggest that another gene(s) is (are) responsible for the Type I/N phenotype in some patients.
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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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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-maleimide (mPEG) under denaturing conditions. A molecule of mPEG attaches to a –SH group, shifting the apparent molecular weight of the protein of interest by aprox. 5 kDa, which is easily detectable in SDS-PAGE. These experiments show that, in the presence of b0,+AT, the rBAT ectodomain is completely oxidised and contains 3 disulfide bonds. The pegylation pattern of C242S and C273A suggest that they form a disulfide bond. Pulse-chase analysis show that mutants C242S to C666S are retained in the ER and degraded, while C673S and C685S displayed slower stability and maturation rate. Interestingly, the double mutant C673S-C685S had a wild-type behaviour. These results strongly suggested that the other 2 disulfides present in rBAT ectodomain are C571-C666 and C673-C685. Further analysis showed that the only disulfide bond that is stably formed in the absence of the others is C242-C273, suggesting that it is the first to form in rBAT. It was also observed that when rBAT is expressed in the absence of b0,+AT, its oxidative folding is impaired, indicating that b0,+AT is necessary for the folding of rBAT. Its main role may be the stabilization of the oxidation of C571 to form the C571-C666 disulfide. This step seems to occur post-translationally and possibly defining the end of the oxidative folding process. In order to analyse the role of the N-glycans of rBAT the N-glycan consensus sites were mutated to serine or alanine. Pulse assays showed that rBAT contains 5 N-glycans. Pulse-chase and Endo H assays showed that all mutants display a wild-type like stability and maturation, except for the S577A mutant. Further studies showed that the N332 probably sustains degradation of unassembled rBAT and that the N-glycan N575 is necessary and sufficient for a wild-type-like maturation rate. The C-terminal loop of rBAT plays a key role in biogenesis as its deletion causes retention in the ER and subsequent degradation of rBAT. Analysis of this C-terminal loop showed that, when mutated, residues S675A, L678A and N679A have a similar maturation defect than the N-glycan mutant S577A and that mutants Y674A, L681A and Y682A showed little maturation and stability, explaining, at least in part, the results obtained when the whole loop is deleted. When expressed in the C673S-C685S background, some single loop mutants show an important decrease in rBAT stability and maturation. This synergistic effect suggests that the disulfide bond masks part of the maturation and stability effects of these loop residues, and that the absence of the disuflide bond potentiate the misfolding and maturation defects caused by these mutations. Finally, the biogenesis effects of some loop residues in the S577A background suggest that residues S675, L678 and N679 interact functionally and/or structurally with the N-glycan N575 and that they may form part of an ER-exit conformational signal in the luminal domain of the transporter.
El objetivo de este trabajo es el de estudiar la biogénesis de las proteínas de membrana. El modelo utilizado para ello es el transportador humano rBAT- b0,+AT, cuya ausencia causa cistinuria. Para estudiar el ensamblaje, el plegamiento y el tráfico del heterodímero se han analizado los puentes disulfuro, los N-glicanos y la cola C-terminal de rBAT. Los resultados muestran que el ectodominio de rBAT se encuentra completamente oxidado formando 3 puentes disulfuro: C242-C273, C571-C666 y C673-C685. Probablemente el primero en formarse es C242-C273 pues es el único capaz de formarse establemente en ausencia de los demás. Cuando una de estas cisteínas se encuentra desapareada, ésta interacciona con los demás residuos de cisteína evitando la correcta formación de los demás puentes disulfuro. La subunidad ligera b0,+AT es necesaria para el plegamiento oxidativo de rBAT. Parece que su presencia estabiliza la oxidación de C571 para formar el puente disulfuro C571-C666. Este puente disulfuro y el C242-C273 son esenciales para la biogénesis del transportador, no así el puente disulfuro C673-C685. rBAT contiene 5 N-glicanos. Ninguno de ellos es esencial para el transportador, aunque son necesarios para una degradación eficiente, para la salida del RE y para que el transportador sea plenamente funcional. De hecho, el N-glicano N575 es necesario y suficiente para conferir una eficiencia máxima de maduración al transportador. El mutante que elimina la cola C-terminal de rBAT, Δ673-685, es retenido en el RE y posteriormente degradado, lo que muestra la importancia de este element en la biogénesis del transportador. El estudio de los mutantes simples y dobles de esta región muestra que estos residuos son importantes para la estabilización y maduración del heterodímero, lo que explica, al menos en parte, el fenotipo observado en Δ673-685. El estudio de los mutantes dobles de la cola C-terminal de rBAT y del N-glicano N575 o del puente disulfuro C673-C685 sugiere que estos elementos podrían interaccionar física y/o funcionalmente con residuos de la cola C-terminal de rBAT para promover la maduración eficiente del transportador, y que podrían constituir parte de una señal conformacional de salida del RE en el dominio luminal de rBAT.
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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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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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Thesis (M.S.) -- University of Maryland, College Park, 2005.
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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Livrozet, Marine. „Lithiase rénale : de la génétique à la bactérie“. Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066633.

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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 calculs de cystine récidivent fréquemment et la cystinurie est caractérisée par un risque élevé de développer une insuffisance rénale chronique. Le modèle que nous proposons permet de tester de nouvelles thérapeutiques. Il met aussi en évidence une atteinte parenchymateuse avec un infiltrat inflammatoire associée aux calculs de cystine. Dans la deuxième partie de ma thèse, j'évalue le rôle des Escherichia coli dans la genèse des calculs phospho-calciques. J'ai étudié en microscopie électronique à balayage des calculs phosphocalciques issus de patients et analysé les propriétés calcifiantes de différentes souches bactériennes sauvages et mutées dans des milieux spécifiques et dans de l'urine. En milieu synthétique le rôle des phosphatases est déterminant mais le type de source de carbone influence l'activité des phosphatases. Dans les urines, certains E. coli induisent la précipitation de phosphate de calcium aussi rapidement que les Klebsiella sans moduler le pH. Le type de source de carbone dans les urines semble déterminant pour moduler la biominéralisation
Urolithiasis is a disease that corresponds to the presence of kidney stones in the urinary tract. It affects about 10% of the population in industrialized countries. About 75% of the stones are made of calcium oxalate. Less than 10% are made of calcium phosphate, 9% are made of uric acid, 5% are made of struvite and less than 1% are made of cystine. The composition depends on the species that are supersaturated in urine. In the first part of my thesis I will present a mouse model of cystinuria type A. Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria). In 129S2/SvPasCrl strain, we evidenced cystine crystals, as well as cystine stones. We observed an heterogenous inflammatory infiltrate and cystine tubular casts in the parenchyma. We identified a single mutation and a defect of the heavy subunit rBAT. This mouse model could allow for further pathophysiological studies and may be useful to analyse the crystal/tissue interaction in cystinuria. In the second part of my thesis I will test the pathogenesis of E. coli in calcium phosphate stones. In this part, I observed calcium phosphate stones by scanning electron microscopy. I also analysed calcifying properties of wild type bacteria and mutant bacteria in urine or in specific calcifying medium. In synthetic medium phosphatases play a role in calcification but carbohydrate source seems to play a major part in the phosphatase activity. In urine some E. coli induce phosphate calcium precipitation as quickly as Klebsiella does
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Rice, Sarah Jayne. „A translational approach to investigate the role of membrane transport proteins in the renal stone disease, cystinuria“. Thesis, University of Newcastle upon Tyne, 2016. http://hdl.handle.net/10443/3201.

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In the kidney, unbound amino acids are freely filtered into the lumen of the nephron. For reabsorption to occur, they must be transported across the phospholipid bilayers of the tubular epithelium by selective transport systems. Mutations in these transport systems can lead to disease though a conferred lack of amino acid re-absorption. One such disease is cystinuria, caused by mutations in SLC3A1 and SLC7A9, which encode the two protein subunits of System b0,+, rBAT and b0,+AT, respectively. In healthy individuals System b0,+ mediates Na+- independent reabsorption of dibasic amino acids, and the cysteine dimer, cystine, in exchange for neutral amino acids. In cystinuric patients, these amino acids are not sufficiently reabsorbed causing a dibasic aminoaciduria and the precipitation of cystine crystals, leading to the formation of renal calculi. A cohort of cystinuric patients was recruited to the study, and both genes were screened for causal variants. A range of techniques was employed to enable the detection of small point mutations and large genomic rearrangements. Four novel missense variants were detected in SLC3A1. These were M465K, N254T, L416P and Y579D. In silico homology modeling of rBAT against the crystal structure of B. cereus oligo-1,6-glucosidase (PDB code 1UOK), predicted the location of these mutations in the extracellular domain of the protein. When rBAT cRNA was injected into Xenopus oocytes, uptake of the prototypical System b0,+ substrate [3H]arginine was observed, following the association of human rBAT with an endogenous oocyte light chain. A series of techniques was optimised to allow the characterisation of FLAG-tagged rBAT function and expression in oocytes, 1-6 days postinjection of cRNA. Mutations in rBAT lead to a mis-folding of the protein and its early degradation in the ER, preventing successful trafficking of the System b0,+ heterodimer to the renal epithelial membrane. This aberrant trafficking leads to reduced rBAT expression and System b0,+ activity in oocytes. Functional characterisation of the novel mutant proteins led to a decrease in the Vmax of [3H]arginine transport. Over-expression of rBAT in oocytes apparently overcomes the defect and leads to a recovery of function over time. However, [3H]arginine uptake in M465Kexpressing oocytes was still lower than that observed with wild-type rBAT even at 6 days postinjection. These data were supported by immunofluorescent detection of rBAT and the mutant proteins at the plasma membrane of oocytes. Western blotting of total membrane proteins from oocytes expressing mutated rBAT showed decreased total protein, suggestive of an increased rate of degradation associated with the pathogenic variants. An increased understanding of the effect of these mutations on the biogenesis of rBAT will contribute to the identification of novel therapeutic targets in the treatment of cystinuria.
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Bücher zum Thema "Cystinuria"

1

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

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

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

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

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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 to renal insufficiency. The diagnosis of cystinuria mainly relies on stone analysis, urinary cystine measurement, or urinary cystine crystal identification. Medical treatment is based upon a stepwise strategy using hydration and alkalinization as basic measures, with the addition of thiol derivatives in refractory cases. Urological interventions are often indicated for the management of cystine stones >5 mm in diameter.
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Sinnott, Bridget, Naim M. Maalouf, Khashayar Sakhaee und Orson W. Moe. Medical management of nephrocalcinosis and nephrolithiasis. Herausgegeben von 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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Levtchenko, Elena N., und Mirian C. Janssen. Cystinosis. Herausgegeben von Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0339_update_001.

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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 allowed cystinosis patients to survive into adulthood, but revealed numerous extrarenal manifestations of the disease, affecting eyes, endocrine organs, gastrointestinal tract, muscles, and central and peripheral nervous systems. The disease mechanism of cystinosis is not fully understood. The administration of the cystine-depleting agent cysteamine slows down renal and extrarenal organ damage, pointing to the pivotal role of cystine accumulation in the disease pathogenesis. Treatment with cysteamine should be initiated as early as possible and continued lifelong, and also after kidney transplantation for protecting extrarenal organs. Cysteamine eye drops are an indispensable part of the treatment of corneal cystine accumulation. Life expectancy of cystinosis patients has substantially improved and is now above 50 years.
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Daudon, Michel, und Paul Jungers. Cystine stones. Herausgegeben von Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0203_update_001.

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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 stones represent 1–2% of all stones in adults and 5–8% in paediatric patients, with an equal distribution between males and females.Cystinuria is caused by inactivating mutations in the gene SLC3A1 or SLC7A9, both encoding proteins contributing to the function of the heterodimeric transport system of cystine.Cystine nephrolithiasis may present in infants, most frequently in adolescents or young adults, sometimes later. Cystine calculi are weakly radio-opaque. Stone analysis using infrared spectroscopy (or X-ray diffraction) allows immediate and accurate diagnosis. Urinary amino acid chromatography quantifies urinary cystine excretion, needed to define the therapeutic strategy.Urological treatment of cystine stones currently uses extracorporeal stone wave lithotripsy or flexible ureterorenoscopy with Holmium laser, that is, minimally invasive techniques. However, as cystine stones are highly recurrent, preventive therapy is essential.Medical treatment combines reduced methionine and sodium intake, to lower cystine excretion; hyperdiuresis (> 3 L/day) to reduce cystine concentration; and active alkalinization preferably using potassium citrate (40–80 mEq/day) to increase cystine solubility by rising urine pH up to 7.5–8. If these measures are insufficient to prevent recurrent stone formation, a thiol derivative (D-penicillamine or tiopronin), which converts cystine into a more soluble disulphide, should be added. Close monitoring and adherence of the patient to the therapeutic programme are needed to ensure life-long compliance, the key for successful prevention in the long term.
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Buchteile zum Thema "Cystinuria"

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Gagnadoux, M. F. „Cystinuria“. In Inborn Metabolic Diseases, 569–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-02613-7_42.

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Baum, Michelle A. „Cystinuria“. In Pocket Guide to Kidney Stone Prevention, 91–97. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-11098-1_11.

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Rodger, R. S. C. „Cystinuria“. In Calculus Disease, 73–88. Dordrecht: Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-2617-2_4.

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Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. „Cystinuria“. In Encyclopedia of Molecular Mechanisms of Disease, 488–89. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_445.

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Jessen, Jan Peter, und Thomas Knoll. „Management of Cystinuria“. In Urolithiasis, 757–65. London: Springer London, 2012. http://dx.doi.org/10.1007/978-1-4471-4387-1_92.

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Krombach, Patrick, Gunnar Wendt-Nordahl und Thomas Knoll. „Cystinuria and Cystine Stones“. In Urinary Tract Stone Disease, 207–15. London: Springer London, 2010. http://dx.doi.org/10.1007/978-1-84800-362-0_17.

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Pierides, A. M., und C. C. Deltas. „Clinical Aspects of Cystinuria“. In Hereditary Kidney Diseases, 167–72. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059895.

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Sumorok, Nicola T., und David S. Goldfarb. „Cystinuria: Assessing and Managing Risk“. In Practical Controversies in Medical Management of Stone Disease, 105–14. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-9575-8_8.

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Koide, T., M. Utsunomiya, S. Yamaguchi und T. Yoshioka. „A New Therapeutic Agent for Cystinuria“. In Urolithiasis 2, 571–74. Boston, MA: Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2556-1_228.

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Bruno, M., und M. Marangella. „Cystinuria: Recent Advances in Pathophysiology and Genetics“. In Hereditary Kidney Diseases, 173–77. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059896.

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Konferenzberichte zum Thema "Cystinuria"

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Florio, L. Di, V. Verrotti di Pianella, A. Lanzano, G. Nardella, T. Merola, F. Sica, A. Longo und M. Pettoello-Mantovani. „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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