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Journal articles on the topic 'Cystinuria'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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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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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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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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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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11

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

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12

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

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13

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

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14

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

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15

Jeong, Jae Yong, Kyung Jin Oh, Jun Seok Sohn, et al. "Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience." Biomedicines 11, no. 10 (2023): 2747. http://dx.doi.org/10.3390/biomedicines11102747.

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Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients’ phenotypes, clinical courses, and genetic analyses. A total of 10 patients with cystinuria diagnosed with cystine stones in a single tertiary medical center (Severance Hospital, Seoul, Republic of Korea) from April 2000 to July 2023 were included in the study. All of the patients participated in mutational studies, and the clinical presentation and con

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16

Mayayo-Vallverdú, Clara, Esther Prat, Marta Vecino-Pérez, et al. "Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study." International Journal of Molecular Sciences 24, no. 24 (2023): 17140. http://dx.doi.org/10.3390/ijms242417140.

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More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the presence of modulatory factors influencing cystinuria severity. In 2016, a second renal cystine transporter, AGT1, encoded by the SLC7A13 gene, was discovered. Although it was discarded as a causative gene for cystinuria, its possible effect as a modulatory gene remains unexplored. Thus, we analyzed its function in mouse models of cystinuri

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17

Miyamoto, K., K. Katai, S. Tatsumi, et al. "Mutations of the basic amino acid transporter gene associated with cystinuria." Biochemical Journal 310, no. 3 (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 activit

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18

Azer, Sarah M., and David S. Goldfarb. "A Summary of Current Guidelines and Future Directions for Medical Management and Monitoring of Patients with Cystinuria." Healthcare 11, no. 5 (2023): 674. http://dx.doi.org/10.3390/healthcare11050674.

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Cystinuria is the most common genetic cause of recurrent kidney stones. As the result of a genetic defect in proximal tubular reabsorption of filtered cystine, increased urine levels of the poorly soluble amino acid result in recurrent cystine nephrolithiasis. Recurrent cystine stones not only adversely affect the quality of patients suffering from cystinuria but also may result in chronic kidney disease (CKD) from recurrent renal injury. Thus, the mainstay of medical management revolves around prevention of stones. Recently published consensus statements on guidelines for managing cystinuria

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19

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

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20

Mishra, Bijaya, Nisha Keshary Bhatta, Anupam Pokhrel, and Madhab Lamsal. "Cystinuria, an Atypical Presentation and Challenges of Establishing its Diagnosis in a Poor Resource Set Up." Journal of Nepal Health Research Council 20, no. 3 (2023): 797–800. http://dx.doi.org/10.33314/jnhrc.v20i3.4175.

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Cystinuria is an autosomal recessive defect in re-absorptive transport of amino acids: cysteine, ornithine, arginine and lysine from renal proximal convoluted tubules leading to urinary excretion of these amino acids. The phenotypic manifestations are recurrent urolithiasis, hematuria, flank pain and frequent urinary tract infection. An eighteen years old boy, diagnosed case of cystinuria at the age of two years is presented in this case report highlighting the atypical presentation of recurrent infections with multiple organ involvement. The challenges in establishing the diagnosis and the ro

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21

López de Heredia, Miguel, Lourdes Muñoz, Ciriaco Carru, et al. "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 (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 predi

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22

Byrd, DennIs J., Marion Lind, and Johannes Brodehl. "Diagnostic and genetic studies in 43 patients with classic cystinuria." Clinical Chemistry 37, no. 1 (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.

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23

Jurkiewicz, Beata, and Joanna Samotyjek. "Difficulties in the surgical treatment of patients with cystinuria – a case report." Pediatria i Medycyna Rodzinna 18, no. 2 (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. Cystinuri

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24

Bazin, Dominique, Michel Daudon, Gilles André, Raphael Weil, Emmanuel Véron, and 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 (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 neutr

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25

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

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26

Lalic, Tijana, Biljana Beleslin, Jasmina Ciric, et al. "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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27

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

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28

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

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29

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

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30

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

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31

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

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32

KAŁUSKA, Joanna, Beata GRZEGRZÓŁKA, and Joanna GRUSZCZYŃSKA. "MOLECULAR DIAGNOSTIC TESTS IDENTIFYING CARRIERS OF SLC3A1 AND SLC7A9 GENE MUTATIONS CAUSING CYSTINURIA IN DOMESTIC CAT-IN SILICO ANALYSIS." Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura, Alimentaria, Piscaria et Zootechnica 367, no. 66 (2023): 35–48. http://dx.doi.org/10.21005/aapz2023.66.2.4.

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Cystinuria is an inherited genetic disease associated with mutations in the SLC3A1 and SLC7A9 genes. The results of studies in cats indicate heterogeneity of the disease. So far 1 mutation in the SLC3A1 gene and 5 mutations in the SLC7A9 gene have been discovered. Cystinuria is often detected too late (later in life), when adults have already had offspring. Quick and easy diagnosis of the disease is therefore important, even before the symptoms appear. The aim of this study was to design simple diagnostic tests to detect 6 mutations that can cause feline cystinuria. Bioinformatic analysis of t

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33

Abad Baucells, Clàudia, Ria Schönauer, and Jan Halbritter. "The genetics of cystinuria – an update and critical reevaluation." Current Opinion in Nephrology & Hypertension 33, no. 2 (2023): 231–37. http://dx.doi.org/10.1097/mnh.0000000000000949.

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Purpose of review We aimed to critically evaluate how the establishment of genotype-based treatment for cystinuria has been hampered due to the large number of variants of unknown significance (VUS) within the disease causing genes as well as challenges in accessing a large enough sample size for systematic analysis of endpoint parameters that truly reflect disease severity. This review further discusses how to overcome these hurdles with the establishment of a cystinuria-specific refinement of the current American College of Medical Genetics and Genomics (ACMG)-criteria of variant interpretat

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34

Kaestner, Lisa-Ann, John Lazarus, Azola Salukazana, Elmi Muller, and Karl-Heinz Jehle. "A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype." Société Internationale d’Urologie Journal 4, no. 3 (2023): 165–70. http://dx.doi.org/10.48083/srpf1472.

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Objective To describe the genetic mutations and phenotype in the first African series of patients with cystinuria. Methods Patients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA sequencing to detect mutations in SLC3A1 and SLC7A9. Chart reviews and patient interviews were conducted to record demographics, previous medical history, family history, stone-specific history, age at first presentation, cystinuria complications, urine cystine:creatinine ratio, stone analysis, and serum creatinine. Results Nine patients were included:

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35

Mori, Ikuo, Taisei Miyauchi, Haruo Ito, Jun Shimzaki, and 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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36

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

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37

Goldfarb, David S., and 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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38

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

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39

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

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40

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

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41

Servais, Aude, Kay Thomas, Luca Dello Strologo, et al. "Cystinuria: clinical practice recommendation." Kidney International 99, no. 1 (2021): 48–58. http://dx.doi.org/10.1016/j.kint.2020.06.035.

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42

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

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43

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

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44

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

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45

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

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46

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

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47

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

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48

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

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49

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

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50

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

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