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Artículos de revistas sobre el tema "Cystinuria"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 9 de junio de 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 method. Samples with urinary cystine concentrations above 178 µmol/g creatinine were considered as cystinuric. Urinary cystine concentration above the upper limit was found in 71 dogs (21.8%) with significantly higher incidence in intact males of Irish Terriers. In general, cystinuria was more common in intact males. In Irish Terriers, Dachshunds, French Bulldogs, German Shorthaired Pointer, Pomeranian, and Fox Terrier, cystinuria was identified in females. Cystinuria appears to be a relatively common finding in dogs in the Czech Republic, with some breeds being more affected. The finding of cystinuria in two female Irish Terriers calls into question the classification of cystinuria in this breed as androgen dependent only. The detection of cystinuria in related dogs suggests that other individuals in the same family should be examined as part of the management of a cystinuric patient.

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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 (August 19, 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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3

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 (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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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 (December 15, 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 fractional excretion and reabsorption of amino acids were determined in 5 affected Newfoundlands. Results Nine dogs had pure cystine calculi in the bladder, and 4 of these had renal cystine calculi. Affected dogs persistently excreted excessive amounts of cystine (> 500 nmol/mg of creatinine; reference = 54 ± 38 nmol/mg of creatinine) and had typical cystine crystals in acidic urine. Urinary excretion of ornithine, lysine, and arginine was also high. Dogs with cystinuria had complete lack of reabsorption and active secretion of cystine, and reabsorption of lysine, ornithine, and arginine was moderately impaired. Although clinical signs of urinary obstruction were observed only in males, cystinuric male and female offspring were produced from noncystinuric parents, consistent with an autosomal recessive mode of inheritance. Obligate heterozygotes did not have clinical signs, and had normal urinary cystine content and renal amino acid reabsorption. Clinical Implications Because detection of carriers by routine urinalysis is currently not possible, Newfoundlands with cystinuria and their parents and offspring should be excluded from breeding.

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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 (June 21, 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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6

Feld, Ronald D., and Zakariya K. Shihabi. "Cystinuria." CRC Critical Reviews in Clinical Laboratory Sciences 26, no. 3 (January 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 (December 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 (March 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 (May 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 (October 30, 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 (August 3, 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 (January 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, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, and Joo Yong Lee. "Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience." Biomedicines 11, no. 10 (October 11, 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 consecutive laboratory findings of the patients were analyzed retrospectively. After the initial stone-related surgery or procedure at our hospital, 6 of the 10 patients underwent additional surgery at least once for recurrent stones. Genetic analyses identified six new mutations, of which only two patients had type B mutations. The most common genotype was compound heterozygous type A. We investigated the genotypes and clinical courses of 10 Korean patients with cystinuria who had not been previously reported. More data are needed to statistically analyze the genotype and phenotype of cystinuria.

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16

Mayayo-Vallverdú, Clara, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, 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 (December 5, 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 cystinuria, screened the SLC7A13 gene in 34 patients with different lithiasic phenotypes, and functionally characterized the identified variants. Mice results showed that AGT1/rBAT may have a protective role against cystine lithiasis. In addition, among the four missense variants detected in patients, two exhibited a 25% impairment in AGT1/rBAT transport. However, no correlation between SLC7A13 genotypes and lithiasis phenotypes was observed in patients, probably because these variants were found in heterozygous states. In conclusion, our results, consistent with a previous study, suggest that AGT1/rBAT does not have a relevant effect on cystinuria patients, although an impact in patients carrying homozygous pathogenic variants cannot be discarded.

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17

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 (September 15, 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.

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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 (February 24, 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 were released from both the United States and Europe. The purpose of this review is to summarize guidelines for medical management of patients with cystinuria, to provide new insight into the utility and clinical significance of cystine capacity—an assay for monitoring cystinuria, and to discuss future directions for research on treatment of cystinuria. We discuss future directions, including the potential use of cystine mimetics, gene therapy, V2-receptor blockers, and SGLT2 inhibitors, topics which have not appeared in more recent reviews. It is notable that in the absence of randomized, controlled trials, the recommendations cited here and in the guidelines are based on our best understanding of the disorder’s pathophysiology, observational studies, and clinical experience.

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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 (August 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 (March 10, 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 role of simple biochemical tests in confirming the diagnosis in a poor resource setup is highlighted. Performance of simple biochemical tests in the urine sample of this patient was done for the utility of these tests for future diagnostic purpose in any suspected cases of cystinuria in our set up.Keywords: Case report; cystinuria; Nepal.

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21

López de Heredia, Miguel, Lourdes Muñoz, Ciriaco Carru, Salvatore Sotgia, Angelo Zinellu, Carmen Serra, Amadeu Llebaria, Yukio Kato, and 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 (September 7, 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.

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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 (January 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. 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.

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Jurkiewicz, Beata, and Joanna Samotyjek. "Difficulties in the surgical treatment of patients with cystinuria – a case report." Pediatria i Medycyna Rodzinna 18, no. 2 (September 16, 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.

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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 (March 28, 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.

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Akcaboy, Meltem, and Sevcan A. Bakkaloglu. "Cystinuria in Childhood." Klinische Pädiatrie 233, no. 04 (July 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, and 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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27

Boutros, Marylise, Caroline Vicanek, Rima Rozen, and Paul Goodyer. "Transient neonatal cystinuria." Kidney International 67, no. 2 (February 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 (April 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 (July 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 (August 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 (November 24, 1999): 945–50. http://dx.doi.org/10.1007/s004670050736.

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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 (June 28, 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 the linkage of SLC3A1 and SLC7A9 with other proteins was performed and attempts were made to evaluate the structural and functional changes that occur due to mutations. The following programs and databases were used in the bioinformatics analysis: Ensembl, NCBI, Primer-BLAST, NEBcutter, STRING, SWISS-MODEL, Variant Effect Predictor (VEP). The proposed primers and enzymes for PCR-RFLP and AS-PCR assays enable the identification of mutation carriers. Identified proteins interactions suggest possible links between cystinuria and the development of other diseases. This may indirectly explain the heterogeneous and complex symptoms accompanying cystinuria. A mutation in exon 5 of the SLC7A9 gene (p.Asp236Asn) causes a change in the predicted spatial conformation of the protein. Using the VEP program, the effect of all mutations on protein functionality was assessed as deleterious. It is imperative that cat breeders first perform a molecular test for the mutation of the SLC7A9 gene (exon 7 at position c.881), as previous studies have shown that this is the most common mutation.

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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 (November 6, 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 interpretation. Recent findings Novel tools such as AlphaMissense combined with the establishment of a refined ACMG criterion will play a significant role in classifying VUS within the responsible disease genes SLC3A1 (rBAT) and SLC7A9 (BAT1). This will also be essential in elucidating the role of promising candidate genes, such as SLC7A13 (AGT1), which have been derived from murine model systems and still need further research to determine if they are involved in human cystinuria. Summary Cystinuria was one of the first disorders to receive a gene-based classification, nonetheless, the clinically actionable implications of genetic diagnostics is still minor. This is due to poorly characterized genotype-phenotype correlations which results in a lack of individualized (genotype-) based management and metaphylaxis.

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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 (May 15, 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: 3 male patients and 6 female patients. The mean age (± SD) of patients was 33.43 ± 19.96 years. The median age (± IQR) at initial diagnosis of cystinuria was 16 ± 18 years, but the age ranged from 2 to 66 years. Three of 9 patients included (33.3%) had chronic kidney disease (CKD); however, none were receiving dialysis. Most patients initially presented with a staghorn calculus (4/9; 44.4%). The mean serum creatinine (± SD) was 84 ± 38 μmol/L. The mean urine cystine (± SD) was 2083 ± 1249 nmoL/mg creatinine. Eight patients had mutations in the SLC3A1 gene; 1 had mutations in both SLC3A1 and SLC7A9. Of the patients with only SLC3A1 mutations, 1 patient was homozygous and the rest were compound heterozygotes (two different mutations identified in the same gene). Four patients had a pathogenic variant in addition to an “uncertain significance” variant in SLC3A1. There were 9 mutations (5 pathogenic and 4 “unknown significance”) in SLC3A1 and 1 mutation in SLC7A9. Two of these were novel mutations. Conclusion This “first in Africa” series of cystinuria patients showed marked heterogeneity in both phenotype and genotype, with a predominance of SLC3A1 mutations. This heterogeneity is similar to that reported in international cohorts.

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

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

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Ekberg, M., J. O. Jeppsson, and T. Denneberg. "PENICILLAMINE TREATMENT OF CYSTINURIA." Acta Medica Scandinavica 195, no. 1-6 (April 24, 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, and 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 (January 2021): 48–58. http://dx.doi.org/10.1016/j.kint.2020.06.035.

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

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Biyani, Chandra S., and Jon J. Cartledge. "Cystinuria—Diagnosis and Management." EAU-EBU Update Series 4, no. 5 (October 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 (February 21, 2017): 324. http://dx.doi.org/10.1038/nrurol.2017.27.

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Gold, R. J. M., M. J. Dobrinski, and D. P. Gold. "Cystinuria and mental deficiency." Clinical Genetics 12, no. 6 (April 23, 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 (April 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 (November 12, 2008): 811–12. http://dx.doi.org/10.1111/j.1469-8749.1979.tb01707.x.

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DENNIS, JENNIFER, and DAVID C. TAYLOR. "Neurological Complications of Cystinuria." Developmental Medicine & Child Neurology 22, no. 3 (November 12, 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, and Angela Doherty. "Cystinuria—a urologist's perspective." Nature Reviews Urology 11, no. 5 (March 25, 2014): 270–77. http://dx.doi.org/10.1038/nrurol.2014.51.

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

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