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Articles de revues sur le sujet « Cystinuria »

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Auteur : Grafiati
Publié le 4 juin 2021
Mis à jour le 24 janvier 2023

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1

Kovaříková, Simona, Petr Maršálek et Kateřina Vrbová. « Cystinuria in Dogs and Cats : What Do We Know after Almost 200 Years ? » Animals 11, no 8 (19 août 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.
2

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, no 3 (septembre 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.
3

Döven, Serra Sürmeli, Ali Delibaş, Hakan Taşkınlar et Ali Naycı. « The impact of surgical intervention on renal function in cystinuria ». Brazilian Journal of Nephrology 40, no 3 (21 juin 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.
4

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

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5

Strologo, Luca Dello, et Gianfranco Rizzoni. « Cystinuria ». Acta Paediatrica 95 (1 juillet 2006) : 31–33. http://dx.doi.org/10.1080/08035320600649473.

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6

Strologo, Luca Dello, et Gianfranco Rizzoni. « Cystinuria ». Acta Paediatrica 95 (2 janvier 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, no 4 (décembre 1990) : 889–907. http://dx.doi.org/10.1016/s0889-8529(18)30299-8.

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8

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

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9

Scrivner, C. R. « Cystinuria ». Journal of Urology 137, no 5 (mai 1987) : 1069–70. http://dx.doi.org/10.1016/s0022-5347(17)44383-7.

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10

Scriver, Charles R. « Cystinuria ». New England Journal of Medicine 315, no 18 (30 octobre 1986) : 1155–57. http://dx.doi.org/10.1056/nejm198610303151808.

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11

Dahlem, Peter. « Cystinuria ». Journal of Pediatric Biochemistry 04, no 02 (3 août 2016) : 093–99. http://dx.doi.org/10.1055/s-0036-1586467.

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12

McNamara, Pamela D., Claire T. Rea, Kenneth C. Bovee, Robert A. Reynolds et Stanton Segal. « Cystinuria in dogs : Comparison of the cystinuric component of the Fanconi syndrome in Basenji dogs to isolated cystinuria ». Metabolism 38, no 1 (janvier 1989) : 8–15. http://dx.doi.org/10.1016/0026-0495(89)90173-x.

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13

Miyamoto, K., K. Katai, S. Tatsumi, K. Sone, H. Segawa, H. Yamamoto, Y. Taketani et al. « Mutations of the basic amino acid transporter gene associated with cystinuria ». Biochemical Journal 310, no 3 (15 septembre 1995) : 951–55. http://dx.doi.org/10.1042/bj3100951.

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To investigate the function of a basic and neutral amino acid transporter-like protein (rBAT) which is a candidate gene for cystinuria, we analysed the rBAT gene in cystinuric patients. Patient 1 is a compound heterozygote with mutations in the rBAT gene causing a glutamine-to-lysine transition at amino acid 268, and a threonine-to-alanine transition at amino acid 341, who inherited these alleles from his mother (E268K) and father (T341A), respectively. Injection of T341A and E268K mutant cRNAs into oocytes decreased transport activity to 53.9% and 62.5% of control (L-cystine transport activity in oocytes injected with wild-type rBAT cRNA), respectively. Co-injection of E268K and T341A into oocytes strongly decreased amino acid transport activity to 28% of control. On the other hand, co-injection of wild-type and mutant rBAT did not decrease transport activity. Furthermore, immunological studies have demonstrated that the reduction of amino acid transport is not due to a decrease in the amount of rBAT protein expressed in oocyte membranes. These results indicate that mutations in the rBAT gene are crucial disease-causing lesions in cystinuria. In addition, co-injection experiments suggest that rBAT may function as a transport activator or regulatory subunit by homo- or hetero-multimer complex formation.
14

STOLLER, MARSHALL L., MICHAEL W. McDONALD, DONALD L. GENTLE, JEREMY BRUCE et ROGER K. LOW. « Acalculous Cystinuria ». Journal of Endourology 11, no 4 (août 1997) : 233–38. http://dx.doi.org/10.1089/end.1997.11.233.

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15

López de Heredia, Miguel, Lourdes Muñoz, Ciriaco Carru, Salvatore Sotgia, Angelo Zinellu, Carmen Serra, Amadeu Llebaria, Yukio Kato et Virginia Nunes. « S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model ». Antioxidants 10, no 9 (7 septembre 2021) : 1424. http://dx.doi.org/10.3390/antiox10091424.

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Cystinuria, a rare inherited aminoaciduria condition, is characterized by the hyperexcretion of cystine, ornithine, lysine, and arginine. Its main clinical manifestation is cystine stone formation in the urinary tract, being responsible for 1–2% total and 6–8% pediatric lithiasis. Cystinuria patients suffer from recurrent lithiasic episodes that might end in surgical interventions, progressive renal functional deterioration, and kidney loss. Cystinuria is monitored for the presence of urinary cystine stones by crystalluria, imaging techniques or urinary cystine capacity; all with limited predicting capabilities. We analyzed blood and urine levels of the natural antioxidant L-ergothioneine in a Type B cystinuria mouse model, and urine levels of its metabolic product S-methyl-L-ergothioneine, in both male and female mice at two different ages and with different lithiasic phenotype. Urinary levels of S-methyl-L-ergothioneine showed differences related to age, gender and lithiasic phenotype. Once normalized by L-ergothioneine to account for interindividual differences, the S-methyl-L-ergothioneine to L-ergothioneine urinary ratio discriminated between cystine lithiasic phenotypes. Urine S-methyl-L-ergothioneine to L-ergothioneine ratio could be easily determined in urine and, as being capable of discriminating between cystine lithiasis phenotypes, it could be used as a lithiasis biomarker in cystinuria patient management.
16

Byrd, DennIs J., Marion Lind et Johannes Brodehl. « Diagnostic and genetic studies in 43 patients with classic cystinuria ». Clinical Chemistry 37, no 1 (1 janvier 1991) : 68–73. http://dx.doi.org/10.1093/clinchem/37.1.68.

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Abstract We present results for laboratory screening and diagnostic tests--cyanide-nitroprusside test, semi-quantitative thin-layer chromatography, and quantitative amino acid column chromatography--of 43 patients with classic cystinuria. We report the efficaciousness of the cyanide-nitroprusside test and of thin-layer chromatography, as compared with quantitative amino acid chromatography, for detecting heterozygotes for type II or III cystinuria. The quantitative results for aminoaciduria in 57 blood relatives in 23 families were used to categorize the index patients with classic cystinuria. By column chromatography the ranges of excretion rates (mumol/24 h per 1.73 m2 body surface area) of diagnostic amino acids in the index patients were as follows: cystine 556-54044 (normal 20-128), arginine 131-11543 (10-80), lysine 768-21848 (51-514), ornithine 185-5685 (0-80). Also by column chromatography the median values for arginine and ornithine excretion in cystine-lysinuric heterozygotes (among the 57 blood relatives) were significantly higher (P less than 0.01) than in controls but never approached the values for homozygotes. The cyanide-nitroprusside test results were positive in urine samples of 41 of 43 index patients and in 16 (51.6%) of the urine samples of 31 obligate heterozygotes with column chromatographically proven cystine-lysinuria. Thin-layer chromatography detected all of the homozygotes, all the compound heterozygotes, and 54.8% of the carriers. According to the type of aminoaciduria in their relatives, 11 patients with classic cystinuria could be classified as having classic cystinuria type I, 11 as having type II or III, and three as being compound heterozygotes. We discuss the implications of these results for correct diagnoses and for genetic studies in classic cystinuria.
17

Bazin, Dominique, Michel Daudon, Gilles André, Raphael Weil, Emmanuel Véron et Guy Matzen. « Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale ? » Journal of Applied Crystallography 47, no 2 (28 mars 2014) : 719–25. http://dx.doi.org/10.1107/s1600576714004658.

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With an incidence of 1:7000 births, cystinuria, the most frequent cause of stone formation among genetic diseases, represents a major medical problem. Twenty-five cystine stones randomly selected from cystinuric patients were investigated. From a crystallographic point of view, cystine stones are composed of micrometre size crystallites, which are made up of an aggregation of nanocrystals. Through scanning electron microscopy, the morphology and size of the crystallites have been described, while the size of the nanocrystals was investigated by means of powder neutron diffraction. Powder neutron diffraction analysis and/or scanning electron microscopy examination of cystine stones provide evidence that usual alkalinization by sodium bicarbonate associated with high diuresis significantly reduces the size of both nanocrystals and crystallites, while for other treatments, including alkalinizing drugs and thiol derivatives, the data suggest mainly changes in the topology of crystallites. Alkalinization with sodium bicarbonate affects cystine kidney stones at the mesoscopic and nanoscopic scales, while other medical treatments only alter their surface. Such an approach may help to assess the interaction between drugs and cystine stones in cystinuric patients.
18

Akcaboy, Meltem, et Sevcan A. Bakkaloglu. « Cystinuria in Childhood ». Klinische Pädiatrie 233, no 04 (juillet 2021) : 200–202. http://dx.doi.org/10.1055/a-1497-2269.

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Lalic, Tijana, Biljana Beleslin, Jasmina Ciric, Mirjana Stojkovic, Slavica Savic, Tanja Nisic, Milos Stojanovic et Milos Zarkovic. « Recurrent nephrolithiasis : Cystinuria ». Medicinski glasnik Specijalna bolnica za bolesti stitaste zlezde i bolesti metabolizma Zlatibor 21, no 61 (2016) : 7–20. http://dx.doi.org/10.5937/medgla1661007l.

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Boutros, Marylise, Caroline Vicanek, Rima Rozen et Paul Goodyer. « Transient neonatal cystinuria ». Kidney International 67, no 2 (février 2005) : 443–48. http://dx.doi.org/10.1111/j.1523-1755.2005.67100.x.

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Anderton, John G. « Cystinuria : An Update ». Journal of the Royal Society of Medicine 91, no 4 (avril 1998) : 220–21. http://dx.doi.org/10.1177/014107689809100415.

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Sumorok, Nicola, et David S. Goldfarb. « Update on cystinuria ». Current Opinion in Nephrology and Hypertension 22, no 4 (juillet 2013) : 427–31. http://dx.doi.org/10.1097/mnh.0b013e3283621c5d.

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23

Rogers, Alexandra, Samer Kalakish, Rahul A. Desai et Dean G. Assimos. « Management of Cystinuria ». Urologic Clinics of North America 34, no 3 (août 2007) : 347–62. http://dx.doi.org/10.1016/j.ucl.2007.04.006.

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Joly, Dominique, Philippe Rieu, Arnaud Méjean, Marie-France Gagnadoux, Michel Daudon et P. Jungers. « Treatment of cystinuria ». Pediatric Nephrology 13, no 9 (24 novembre 1999) : 945–50. http://dx.doi.org/10.1007/s004670050736.

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Jurkiewicz, Beata, et Joanna Samotyjek. « Difficulties in the surgical treatment of patients with cystinuria – a case report ». Pediatria i Medycyna Rodzinna 18, no 2 (16 septembre 2022) : 163–68. http://dx.doi.org/10.15557/pimr.2022.0024.

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Cystinuria is an autosomal recessive disorder. Two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) and SL7A9 (chromosome 19q12). Their mutations cause high clinical variability in the course of the disorder. Over the past 10 years, an increase in the prevalence of cystinuria has been observed, which is now approximately 1:7,000 newborns. Similarly to cystic fibrosis, it is one of the most common diseases with this pattern of inheritance. Its clinical picture usually includes active stone formation (at least twice a year) and short periods of remission. Cystinuria relatively quickly leads to chronic renal failure. Patients with this disorder require constant supervision as well as monitoring of treatment outcomes. This paper presents a case of a 17-year-old boy diagnosed with cystinuria at the age of 3 months, when first bilateral pelvicalyceal stones were found on ultrasound. Immediately after the diagnosis, fluid supply was increased, treatment with captopril and a mixture of citrates (Shohl’s solution) was initiated, which in later years was switched to potassium citrate/tiopronin. The implemented conservative treatment and constant nephrological care failed to prevent relapses in the patient. The boy underwent a total of 40 surgical interventions, including minimally invasive endoscopic procedures (extracorporeal lithotripsy, percutaneous nephrolithotripsy, ureteroscopic lithotripsy, retrograde intrarenal surgery) and three open surgeries to completely remove kidney stones.
26

Vyoralová, Zuzana, et Tomáš Šálek. « Recurrent urinary tract infections and cystinuria ». Urologie pro praxi 20, no 4 (10 octobre 2019) : 186–90. http://dx.doi.org/10.36290/uro.2019.075.

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Mori, Ikuo, Taisei Miyauchi, Haruo Ito, Jun Shimzaki et Shino Murakami. « CLINICAL STUDY ON CYSTINURIA ». Japanese Journal of Urology 77, no 10 (1986) : 1559–65. http://dx.doi.org/10.5980/jpnjurol1928.77.10_1559.

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Guillén, Marisa, et Dolores Corella. « Cystinuria subtype and nephrolithiasis ». Kidney International 56, no 1 (juillet 1999) : 353–54. http://dx.doi.org/10.1046/j.1523-1755.1999.00550.x.

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Goldfarb, David S., et Michael Grasso. « Case Studies in Cystinuria ». Urologic Nursing 37, no 2 (2018) : 90. http://dx.doi.org/10.7257/1053-816x.2017.37.2.90.

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NG, CHRISTOPHER S., et STEVAN B. STREEM. « Contemporary Management of Cystinuria ». Journal of Endourology 13, no 9 (novembre 1999) : 647–51. http://dx.doi.org/10.1089/end.1999.13.647.

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Ekberg, M., J. O. Jeppsson et T. Denneberg. « PENICILLAMINE TREATMENT OF CYSTINURIA ». Acta Medica Scandinavica 195, no 1-6 (24 avril 2009) : 415–19. http://dx.doi.org/10.1111/j.0954-6820.1974.tb08162.x.

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Tuso, Phil, Michelle Barnett, Chikao Yasunaga et Donald Nortman. « Cystinuria and Renal Transplantation ». Nephron 63, no 4 (1993) : 478. http://dx.doi.org/10.1159/000187262.

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Servais, Aude, Kay Thomas, Luca Dello Strologo, John A. Sayer, Soumeya Bekri, Aurelia Bertholet-Thomas, Matthew Bultitude et al. « Cystinuria : clinical practice recommendation ». Kidney International 99, no 1 (janvier 2021) : 48–58. http://dx.doi.org/10.1016/j.kint.2020.06.035.

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Bai, Yunjin, Yin Tang, Ping Han et Jia Wang. « Gene therapy for cystinuria ». Urolithiasis 47, no 3 (25 janvier 2019) : 309–10. http://dx.doi.org/10.1007/s00240-019-01111-7.

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Biyani, Chandra S., et Jon J. Cartledge. « Cystinuria—Diagnosis and Management ». EAU-EBU Update Series 4, no 5 (octobre 2006) : 175–83. http://dx.doi.org/10.1016/j.eeus.2006.06.001.

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Thoma, Clemens. « Cystinuria — supplement supports solubilization ». Nature Reviews Urology 14, no 6 (21 février 2017) : 324. http://dx.doi.org/10.1038/nrurol.2017.27.

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Gold, R. J. M., M. J. Dobrinski et D. P. Gold. « Cystinuria and mental deficiency ». Clinical Genetics 12, no 6 (23 avril 2008) : 329–32. http://dx.doi.org/10.1111/j.1399-0004.1977.tb00951.x.

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Wright, Ernest M. « Cystinuria defect expresses itself ». Nature Genetics 6, no 4 (avril 1994) : 328–29. http://dx.doi.org/10.1038/ng0494-328.

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Kurczynski, Thaddeus W. « NEUROLOGICAL COMPLICATIONS OF CYSTINURIA ». Developmental Medicine & ; Child Neurology 21, no 6 (12 novembre 2008) : 811–12. http://dx.doi.org/10.1111/j.1469-8749.1979.tb01707.x.

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DENNIS, JENNIFER, et DAVID C. TAYLOR. « Neurological Complications of Cystinuria ». Developmental Medicine & ; Child Neurology 22, no 3 (12 novembre 2008) : 402–3. http://dx.doi.org/10.1111/j.1469-8749.1980.tb03725.x.

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Thomas, Kay, Kathie Wong, John Withington, Matthew Bultitude et Angela Doherty. « Cystinuria—a urologist's perspective ». Nature Reviews Urology 11, no 5 (25 mars 2014) : 270–77. http://dx.doi.org/10.1038/nrurol.2014.51.

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Clayton-Smith, Jill. « Jeune syndrome and cystinuria ». American Journal of Medical Genetics 41, no 4 (15 décembre 1991) : 531. http://dx.doi.org/10.1002/ajmg.1320410431.

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Claes, Donna J., et Elizabeth Jackson. « Cystinuria : mechanisms and management ». Pediatric Nephrology 27, no 11 (27 janvier 2012) : 2031–38. http://dx.doi.org/10.1007/s00467-011-2092-6.

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Lee, Franklin, Ruthie Su et Thomas Lendvay. « Cystinuria Crystals : An Image From a 14-Year-Old Girl With Cystinuria ». Urology 81, no 4 (avril 2013) : e29. http://dx.doi.org/10.1016/j.urology.2012.12.014.

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GUCEV, ZORAN, NADICA RISTOSKA-BOJKOVSKA, KATERINA POPOVSKA-JANKOVIC, EMILIJA SUKAROVA-STEFANOVSKA, VELIBOR TASIC, DIJANA PLASESKA-KARANFILSKA et GEORGI D. EFREMOV. « Cystinuria AA (B) : digenic inheritance with three mutations in two cystinuria genes ». Journal of Genetics 90, no 1 (avril 2011) : 157–59. http://dx.doi.org/10.1007/s12041-011-0045-2.

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Bultitude, M., et K. Thomas. « ‘Cystinuria Support’ – a new dedicated forum for patients with the rare disease cystinuria ». European Urology Open Science 19 (juillet 2020) : e717. http://dx.doi.org/10.1016/s2666-1683(20)33058-5.

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47

Gillion, Valentine, Thibaud-Pierre Saussez, Sandy Van Nieuwenhove et Michel Jadoul. « Extremely rapid stone formation in cystinuria : look out for dietary supplements ! » Clinical Kidney Journal 14, no 6 (28 janvier 2021) : 1694–96. http://dx.doi.org/10.1093/ckj/sfab013.

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Abstract Cystinuria is an autosomal recessive disease characterized by recurrent nephrolithiasis. The prevention of new stones is based on diluting and alkalinizing urine, as well as a low salt and moderate protein intake. The avoidance of food rich in methionine (the precursor of cystine) is also advocated. We report the case of a young adult adherent to the preventative strategy who was stone-free and within months formed a large stone. This coincided with the recent intake of a dietary supplement containing both cystine and methionine. Patients and physicians should be aware of the potential harm of such supplements in patients with cystinuria.
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Singh, Prabhakar, Richa Gupta et Abhishek Gupta. « Cystinuria in association with cataract ». Indian Journal of Ophthalmology 68, no 1 (2020) : 209. http://dx.doi.org/10.4103/ijo.ijo_1330_19.

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Ala-Opas, Martti, Ilkka Sipilä, Seppo Kivinen et Timo Lehtonen. « Diagnostic Problems Associated with Cystinuria ». Scandinavian Journal of Urology and Nephrology 24, no 2 (janvier 1990) : 133–35. http://dx.doi.org/10.3109/00365599009180378.

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50

KAYNAR, Kübra, Onur KÜÇÜK et Canan ŞEHİT. « Unusual Cause of Nephrolithiasis : Cystinuria ». Turkiye Klinikleri Journal of Case Reports 27, no 1 (2019) : 50–53. http://dx.doi.org/10.5336/caserep.2018-61835.

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