Research & Literature

Digenic Inheritance in Cystinuria Mouse Model.

Espino M, Font-Llitjós M, Vilches C, et al.

PloS one 2015; (10(9)):e0137277 doi:10.1371/journal.pone.0137277.

Complications of percutaneous nephrolithotomy: classification, management, and prevention.

Kallidonis P, Panagopoulos V, Kyriazis I, Liatsikos E

Current opinion in urology 2016; (26(1)):88-94 doi:10.1097/MOU.0000000000000232.

Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study.

Varda BK, Johnson EK, Johnson KL, et al.

Journal of pediatric urology 2016; (12(2)):106.e1-7.

The Clinical Impact of Accurate Cystine Calculi Characterization Using Dual-Energy Computed Tomography.

Haley WE, Ibrahim el-SH, Qu M, et al.

Case reports in radiology 2015; (2015()):801021 doi:10.1155/2015/801021.

Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria.

Oliver KV, Vilasi A, Maréchal A, et al.

Scientific reports 2016; (6()):34737 doi:10.1038/srep34737.

Genetic defects underlying renal stone disease.

Rumsby G

International journal of surgery (London, England) 2016; (36(Pt D)):590-595 doi:10.1016/j.ijsu.2016.11.015.

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.

Kim JH, Park E, Hyun HS, et al.

Journal of Korean medical science 2017; (32(2)):310-314 doi:10.3346/jkms.2017.32.2.310.

Delineation of cystinuria in Saudi Arabia: A case series.

Obaid A, Nashabat M, Al Fakeeh K, et al.

BMC nephrology 2017; (18(1)):50 doi:10.1186/s12882-017-0469-x.

Retrograde intrarenal surgery in the management of pediatric cystine stones.

Yuruk E, Tuken M, Gonultas S, et al.

Journal of pediatric urology 2017; (13(5)):487.e1-487.e5 doi:10.1016/j.jpurol.2017.01.015.

Clinical and genetic characterization of Chinese pediatric cystine stone patients.

Shen L, Cong X, Zhang X, et al.

Journal of pediatric urology 2017; (13(6)):629.e1-629.e5 doi:10.1016/j.jpurol.2017.05.021.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Gaildrat P, Lebbah S, Tebani A, et al.

Molecular genetics & genomic medicine 2017; (5(4)):373-389 doi:10.1002/mgg3.294.

The impact of surgical intervention on renal function in cystinuria.

Döven SS, Delibaş A, Taşkınlar H, Naycı A

Jornal brasileiro de nefrologia 2018; (40(3)):256-260 doi:10.1590/2175-8239-JBN-2018-0034.

In Vivo Analysis of Urinary Stones With Dual-Energy Computed Tomography.

Erdogan H, Temizoz O, Koplay M, Ozturk B

Journal of computer assisted tomography 2019; (43(2)):214-219 doi:10.1097/RCT.0000000000000831.

Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre.

Kum F, Wong K, Game D, et al.

Urolithiasis 2019; (47(4)):357-363 doi:10.1007/s00240-019-01110-8.

Efficacy of single-source rapid kV-switching dual-energy CT for characterization of non-uric acid renal stones: a prospective ex vivo study using anthropomorphic phantom.

Cannella R, Shahait M, Furlan A, et al.

Abdominal radiology (New York) 2020; (45(4)):1092-1099 doi:10.1007/s00261-019-02164-3.

What are the main challenges to the pharmacological management of cystinuria?

Rezaee ME, Rule AD, Pais VM

Expert opinion on pharmacotherapy 2020; (21(2)):131-133 doi:10.1080/14656566.2019.1691522.

The effect of additional drug therapy as metaphylaxis in patients with cystinuria: a systematic review.

Melessen IM, Henderickx MM, Merkx MM, et al.

Minerva urologica e nefrologica = The Italian journal of urology and nephrology 2020; (72(4)):427-440 doi:10.23736/S0393-2249.20.03704-2.

Update on cystine stones: current and future concepts in treatment.

Moussa M, Papatsoris AG, Abou Chakra M, Moussa Y

Intractable & rare diseases research 2020; (9(2)):71-78 doi:10.5582/irdr.2020.03006.

A single center's experience in pediatric cystine stone disease management: what changed over time?

Asi T, Dogan HS, Bozaci AC, et al.

Urolithiasis 2020; (48(6)):493-499 doi:10.1007/s00240-020-01200-y.

Structural basis for amino acid exchange by a human heteromeric amino acid transporter.

Wu D, Grund TN, Welsch S, et al.

Proceedings of the National Academy of Sciences of the United States of America 2020; (117(35)):21281-21287 doi:10.1073/pnas.2008111117.

Cystinuria: clinical practice recommendation.

Servais A, Thomas K, Dello Strologo L, et al.

Kidney international 2021; (99(1)):48-58 doi:10.1016/j.kint.2020.06.035.

Non-contrast computed tomography characteristics in a large cohort of cystinuria patients.

Warren H, Poon D, Srinivasan R, et al.

World journal of urology 2021; (39(7)):2753-2757 doi:10.1007/s00345-020-03509-0.

Clinical profile of a Polish cohort of children and young adults with cystinuria.

Tkaczyk M, Gadomska-Prokop K, Załuska-Leśniewska I, et al.

Renal failure 2021; (43(1)):62-70 doi:10.1080/0886022X.2020.1860089.

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Halalsheh OM, Al-Shehabat MA, Al-Ghazo MA, et al.

Annals of medicine and surgery (2012) 2021; (63()):102182 doi:10.1016/j.amsu.2021.102182.

Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria.

Primiano A, Persichilli S, Di Giacinto F, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (518()):128-133 doi:10.1016/j.cca.2021.03.017.

Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?

Kovaříková S, Maršálek P, Vrbová K

Animals : an open access journal from MDPI 2021; (11(8)) doi:10.3390/ani11082437.

Implementation of a Technique Based on Hounsfield Units and Hounsfield Density to Determine Kidney Stone Composition.

Rodríguez-Plata IT, Medina-Escobedo M, Basulto-Martínez M, et al.

Tomography (Ann Arbor, Mich.) 2021; (7(4)):606-613 doi:10.3390/tomography7040051.

Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis.

Vinit N, Khoury A, Lopez P, et al.

Frontiers in pediatrics 2021; (9()):763317 doi:10.3389/fped.2021.763317.

Cystinuria: An Overview of Challenges and Surgical Management.

Clark CS, Gnanappiragasam S, Thomas K, Bultitude M

Frontiers in surgery 2022; (9()):812226 doi:10.3389/fsurg.2022.812226.

Accurate 24-h urine cystine quantification for patients on cystine-binding thiol drugs.

Mikel CC, Goldfarb DS, Ponte A, et al.

Urolithiasis 2022; (50(6)):721-727 doi:10.1007/s00240-022-01364-9.

Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.

Piñero-Fernández JA, Vicente-Calderón C, Lorente-Sánchez MJ, et al.

Pediatric nephrology (Berlin, Germany) 2023; (38(5)):1513-1521 doi:10.1007/s00467-022-05732-w.

Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation.

Liu L, Xu Z, Guan Y, et al.

Genes 2022; (13(11)) doi:10.3390/genes13112173.

Case-based review of dietary management of cystinuria.

Ucmak H, Sonmez MG, Guven S

World journal of urology 2023; (41(5)):1215-1220 doi:10.1007/s00345-022-04263-1.

Genetic and clinical analysis of Chinese pediatric patients with cystinuria.

Zhan R, Ge Y, Liu Y, et al.

Urolithiasis 2022; (51(1)):20 doi:10.1007/s00240-022-01398-z.

Pediatric cystine stone successfully treated by mini-percutaneous nephrolithotripsy and antegrade ureteroscopy.

Kakinoki H, Yamaguchi Y, Kakinoki Y, et al.

IJU case reports 2023; (6(2)):137-140 doi:10.1002/iju5.12570.

Outcomes of Paediatric Cystine Stone Management: Results of a Systematic Review.

Ripa F, Pietropaolo A, Geraghty R, et al.

Current urology reports 2023; (24(8)):371-380 doi:10.1007/s11934-023-01162-9.

Entering into 2.0 cystinuric management with a medical digital tool to monitor urine pH: a prospective, randomized study.

Angerri O, Gracia S, Rousaud F, et al.

Actas urologicas espanolas 2023; (47(9)):560-565 doi:10.1016/j.acuroe.2023.04.004.

Cystine Stones: Developments in Minimally Invasive Surgery and Their Impact on Morbidity and Stone Clearance.

Hughes T, Tzelves L, Somani BK

Research and reports in urology 2023; (15()):175-185 doi:10.2147/RRU.S381190.

Self-Assembly of Cysteine into Nanofibrils Precedes Cystine Crystal Formation: Implications for Aggregation Inhibition.

Oluwatoba DS, Chakraborty P, Laor Bar-Yosef D, et al.

ACS applied materials & interfaces 2023; (15(27)):32177-32187 doi:10.1021/acsami.3c03267.

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

Wu CW, Badreddine J, Chang J, et al.

Urolithiasis 2023; (51(1)):101 doi:10.1007/s00240-023-01473-z.

Pharmacological interventions for the management of cystinuria: a systematic review.

Bhatt NP, Deshpande AV, Starkey MR

Journal of nephrology 2024; (37(2)):293-308 doi:10.1007/s40620-023-01795-6.

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

Liu D, Zhao Y, Xue X, et al.

BMC medical genomics 2023; (16(1)):333 doi:10.1186/s12920-023-01767-6.

Effect of urine alkalization on urinary inflammatory markers in cystinuric patients.

Prot-Bertoye C, Jung V, Tostivint I, et al.

Clinical kidney journal 2024; (17(3)):sfae040 doi:10.1093/ckj/sfae040.

Ureteroscopic management in cystinuric patients: long-term results from a tertiary care referral center.

Candela L, Chicaud M, Solano C, et al.

World journal of urology 2024; (42(1)):362 doi:10.1007/s00345-024-05067-1.

Investigation of gaseous end products produced by thulium fiber laser lithotripsy of cystine, uric acid, and calcium oxalate monohydrate stones: A gas chromatographic and electron microscopic analysis.

Kılınç MT, Özkent MS, Pişkin MM, Göger YE

Urolithiasis 2024; (52(1)):125 doi:10.1007/s00240-024-01625-9.

Tiopronin-induced Membranous Nephropathy Presenting with IgG4-predominant Staining Pattern.

Yamashita J, Hirakawa Y, Sato Y, et al.

Internal medicine (Tokyo, Japan) 2025; (64(7)):1079-1083 doi:10.2169/internalmedicine.4047-24.

Challenges in diagnosis and treatment of cystinuria patients with Urolithiasis: multicenter patient centered study.

Kamal WK, Abuzenada M, Azhar RA, et al.

World journal of urology 2024; (42(1)):566 doi:10.1007/s00345-024-05244-2.

Cystinuria in children: diagnosis and treatment.

Gökçe Mİ, Karaburun MC

World journal of urology 2025; (43(1)):226 doi:10.1007/s00345-025-05604-6.

Enhancing Renal Stone Management: Tip-Flexible Ureteral Access Sheath in Cystine Stone Surgery.

Xu T, Kwan KJS, Xiong L

The American journal of case reports 2025; (26()):e946800 doi:10.12659/AJCR.946800.

A Case of Cystinuria With Compound Heterozygous Mutations Both in SLC3A1 and SLC7A9 Genes.

Suh SH, Song SH, Choi HS, et al.

Electrolyte & blood pressure : E & BP 2025; (23(1)):17-21 doi:10.5049/EBP.2025.23.e2.

Outcomes of Tiopronin and D-Penicillamine Therapy in Pediatric Cystinuria: A Clinical Comparison of Two Cases.

Schaefer B, Garba A, Wu X

Reports (MDPI) 2025; (8(3)) doi:10.3390/reports8030163.