Cystinuria: clinical practice recommendation.
暂无分享,去创建一个
M. Bultitude | M. Daudon | S. Doizi | K. Thomas | B. Knebelmann | E. Levtchenko | J. Sayer | S. Lemoine | F. Emma | A. Servais | S. Bekri | L. Heidet | R. Čerkauskienė | G. Capolongo | J. Halbritter | A. Bertholet-Thomas | S. Gràcia-Garcia | L. Strologo | V. Gillion | M. V. D. van den Heijkant
[1] Farzana Perwad,et al. α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases , 2020, Pediatrics.
[2] D. Papagiannopoulos,et al. Evaluation and medical management of patients with cystine nephrolithiasis: a consensus statement. , 2020, Journal of endourology.
[3] J. Jais,et al. Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France , 2019, BJU international.
[4] R. Pickard,et al. Factors associated with spontaneous stone passage in a contemporary cohort of patients presenting with acute ureteric colic: results from the Multi‐centre cohort study evaluating the role of Inflammatory Markers In patients presenting with acute ureteric Colic (MIMIC) study , 2019, BJU international.
[5] M. Bultitude,et al. Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre , 2019, Urolithiasis.
[6] M. Ward,et al. Cystinuria: genetic aspects, mouse models, and a new approach to therapy , 2018, Urolithiasis.
[7] B. Eisner,et al. Conversion from Cystine to Noncystine Stones: Incidence and Associated Factors , 2018, The Journal of urology.
[8] V. Kholodovych,et al. Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria. , 2018, Bioorganic & medicinal chemistry letters.
[9] B. Somani,et al. Journey of a cystinuric patient with a long-term follow-up from a medical stone clinic: necessity to be SaFER (stone and fragments entirely removed) , 2018, Urolithiasis.
[10] M. Stoller,et al. Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease. , 2018, Journal of endourology.
[11] M. Pearle,et al. Do Urinary Cystine Parameters Predict Clinical Stone Activity? , 2018, The Journal of urology.
[12] N. Voermans,et al. PREPL deficiency: delineation of the phenotype and development of a functional blood assay , 2017, Genetics in Medicine.
[13] A. Bourillon,et al. Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon , 2017, Clinical genetics.
[14] T. Frebourg,et al. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants , 2017, Molecular genetics & genomic medicine.
[15] S. Nakada,et al. Cystine Stone Formers Have Impaired Health-Related Quality of Life Compared with Noncystine Stone Formers: A Case-Referent Study Piloting the Wisconsin Stone Quality of Life Questionnaire Among Patients with Cystine Stones. , 2017, Journal of endourology.
[16] A. Ramanathan,et al. α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria , 2017, Nature Medicine.
[17] M. Alfadhel,et al. Delineation of cystinuria in Saudi Arabia: A case series , 2017, BMC Nephrology.
[18] M. Ward,et al. l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. , 2016, Journal of medicinal chemistry.
[19] T. Knoll,et al. Quality Assessment of Urinary Stone Analysis: Results of a Multicenter Study of Laboratories in Europe , 2016, PloS one.
[20] T. Athanasiou,et al. Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? , 2016, Journal of endourology.
[21] Emilie K. Johnson,et al. Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study. , 2016, Journal of pediatric urology.
[22] Kemal Sarica,et al. EAU Guidelines on Diagnosis and Conservative Management of Urolithiasis. , 2016, European urology.
[23] M. Palacín,et al. Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1 , 2016, Proceedings of the National Academy of Sciences.
[24] P. Osther,et al. How should patients with cystine stone disease be evaluated and treated in the twenty-first century? , 2016, Urolithiasis.
[25] Justin M Parr,et al. Natural history and quality of life in patients with cystine urolithiasis: a single centre study , 2015, BJU international.
[26] D. Thwaites,et al. Clinical and genetic analysis of patients with cystinuria in the United Kingdom. , 2015, Clinical journal of the American Society of Nephrology : CJASN.
[27] M. Wass,et al. The genetic diversity of cystinuria in a UK population of patients , 2015, BJU international.
[28] M. Daudon,et al. CKD and Its Risk Factors among Patients with Cystinuria. , 2015, Clinical journal of the American Society of Nephrology : CJASN.
[29] B. Knebelmann,et al. A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients. , 2015, Journal of proteome research.
[30] D. Assimos. Re: Predicting urinary stone composition based on single-energy noncontrast computed tomography: the challenge of cystine. , 2014, The Journal of urology.
[31] M. Desai,et al. PCNL in the twenty-first century: role of Microperc, Miniperc, and Ultraminiperc , 2015, World Journal of Urology.
[32] Dana R. Kriesel,et al. Ultrasonography versus computed tomography for suspected nephrolithiasis. , 2014, The New England journal of medicine.
[33] M. Bultitude,et al. Cystinuria—a urologist's perspective , 2014, Nature Reviews Urology.
[34] V. Kokkinou,et al. Cystinuria: current diagnosis and management. , 2014, Urology.
[35] M. Monga,et al. Predicting urinary stone composition based on single-energy noncontrast computed tomography: the challenge of cystine. , 2014, Urology.
[36] G. Gambaro,et al. When to suspect a genetic disorder in a patient with renal stones, and why. , 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[37] M. Grasso,et al. Ureteropyeloscopic treatment of large, complex intrarenal and proximal ureteral calculi , 2013, BJU international.
[38] L. Pizzi,et al. Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers , 2013, Urolithiasis.
[39] E. Jackson,et al. Cystinuria: mechanisms and management , 2012, Pediatric Nephrology.
[40] F. Muller,et al. Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria , 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[41] E. Levtchenko,et al. Necessity of fractionated urine collection for monitoring patients with cystinuria. , 2011, Clinical chemistry.
[42] V. Nieto,et al. Hiperecogenicidad prenatal del colon como signo precoz de cistinuria , 2011 .
[43] M. I. Luis Yanes,et al. Foetal hyper-echogenic colon as an early sign of cystinuria. , 2011, Nefrología.
[44] Z. Gucev,et al. Nephrotic syndrome occurring during tiopronin treatment for cystinuria , 2011, European Journal of Pediatrics.
[45] M. Ward,et al. Crystal Growth Inhibitors for the Prevention of l-Cystine Kidney Stones Through Molecular Design , 2010, Science.
[46] E. H. Lambert,et al. Analysis of 24-hour urine parameters as it relates to age of onset of cystine stone formation. , 2010, Journal of endourology.
[47] D. Goldfarb,et al. Pathophysiology and treatment of cystinuria , 2010, Nature Reviews Nephrology.
[48] A. Kural,et al. The role for active monitoring in urinary stones: a systematic review. , 2010, Journal of endourology.
[49] H. Tiselius. New horizons in the management of patients with cystinuria , 2010, Current opinion in urology.
[50] G. Hidas,et al. Extracorporeal shock wave lithotripsy in prepubertal children: 22-year experience at a single institution with a single lithotriptor. , 2009, The Journal of urology.
[51] Eric J Bergstralh,et al. Kidney stones and the risk for chronic kidney disease. , 2009, Clinical journal of the American Society of Nephrology : CJASN.
[52] R. Deberardinis,et al. Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. , 2008, The Journal of urology.
[53] S. Nakada,et al. Acetazolamide is an effective adjunct for urinary alkalization in patients with uric acid and cystine stone formation recalcitrant to potassium citrate. , 2008, Urology.
[54] D. Goldfarb,et al. Cystinuria. , 2008, Seminars in Nephrology.
[55] A. C. Buck,et al. 2007 Guideline for the management of ureteral calculi. , 2007, European urology.
[56] R. Paterson,et al. Cystine calculi: correlation of CT-visible structure, CT number, and stone morphology with fragmentation by shock wave lithotripsy , 2007, Urological Research.
[57] H. Bouzidi,et al. Cystinurie : du diagnostic à la surveillance thérapeutique , 2007 .
[58] A. Pastore,et al. Cystinuria in children and young adults: success of monitoring free-cystine urine levels , 2007, Pediatric Nephrology.
[59] Raoul Rooman,et al. Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome , 2007, European Journal of Human Genetics.
[60] C. Iselin,et al. Low-dose versus standard-dose CT protocol in patients with clinically suspected renal colic. , 2007, AJR. American journal of roentgenology.
[61] H. Tiselius,et al. Composition and clinically determined hardness of urinary tract stones , 2007, Scandinavian journal of urology and nephrology.
[62] M. Daudon,et al. [Cystinuria: from diagnosis to follow-up]. , 2007, Annales de Biologie Clinique.
[63] C. Garel,et al. Hyper‐echogenic colon: a prenatal sign of cystinuria? , 2006, Prenatal diagnosis.
[64] G. Habib,et al. Penicillamine and nephrotic syndrome. , 2006, European journal of internal medicine.
[65] A. Evan,et al. Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis , 2006, BJU international.
[66] F. de Zegher,et al. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. , 2006, American journal of human genetics.
[67] M. Daudon. Épidémiologie actuelle de la lithiase rénale en France , 2005 .
[68] S. Nakada,et al. Urological intervention in patients with cystinuria is decreased with medical compliance. , 2005, The Journal of urology.
[69] H. Mostafid,et al. Planning percutaneous nephrolithotomy using multidetector computed tomography urography, multiplanar reconstruction and three‐dimensional reformatting , 2005, BJU international.
[70] D. Goldfarb,et al. Effect of cystine-binding thiol drugs on urinary cystine capacity in patients with cystinuria. , 2005, Journal of endourology.
[71] M. Palacín,et al. New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype , 2005, Journal of Medical Genetics.
[72] W. Geilenkeuser,et al. Quality control in urinary stone analysis: results of 44 ring trials (1980–2001) , 2005, Clinical chemistry and laboratory medicine.
[73] A. Holdgate,et al. Systematic review of the relative efficacy of non-steroidal anti-inflammatory drugs and opioids in the treatment of acute renal colic , 2004, BMJ : British Medical Journal.
[74] P. Alken,et al. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up , 2004, Pediatric Nephrology.
[75] K. Zerres,et al. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. , 2003, Kidney international.
[76] Y. Kreiss,et al. Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls. , 2003, The Israel Medical Association journal : IMAJ.
[77] James E Lingeman,et al. Variability of renal stone fragility in shock wave lithotripsy. , 2003, Urology.
[78] M. Daudon,et al. Cystine crystal volume determination: a useful tool in the management of cystinuric patients , 2003, Urological Research.
[79] M. Gallucci,et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. , 2002, Journal of the American Society of Nephrology : JASN.
[80] B. Weaver,et al. The accuracy of noncontrast helical computed tomography versus intravenous pyelography in the diagnosis of suspected acute urolithiasis: a meta-analysis. , 2002, Annals of emergency medicine.
[81] D. Assimos,et al. The impact of cystinuria on renal function. , 2002, The Journal of urology.
[82] H. Tiselius,et al. A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria , 2001, Urological Research.
[83] J. Parks,et al. Solid phase assay of urine cystine supersaturation in the presence of cystine binding drugs. , 2001, The Journal of urology.
[84] G. Borsani,et al. The molecular bases of cystinuria and lysinuric protein intolerance. , 2001, Current opinion in genetics & development.
[85] R. Venta. Year-long validation study and reference values for urinary amino acids using a reversed-phase HPLC method. , 2001, Clinical chemistry.
[86] D. Goldfarb,et al. Clinical use of cystine supersaturation measurements. , 2000, The Journal of urology.
[87] M. Daudon. L'analyse morphoconstitutionnelle des calculs dans le diagnostic étiologique d'une lithiase urinaire de l'enfant , 2000 .
[88] P. Rieu,et al. Medical treatment of cystinuria: critical reappraisal of long-term results. , 2000, The Journal of urology.
[89] C. Kane,et al. Time to stone passage for observed ureteral calculi: a guide for patient education. , 1999, The Journal of urology.
[90] X. Estivill,et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT , 1999, Nature Genetics.
[91] K. Akakura,et al. The Long-Term Outcome of Cystinuria in Japan , 1998, Urologia Internationalis.
[92] C. Roehrborn,et al. Optimal method of urgent decompression of the collecting system for obstruction and infection due to ureteral calculi. , 1998, The Journal of urology.
[93] G. Chow,et al. Contemporary urological intervention for cystinuric patients: immediate and long-term impact and implications. , 1998, The Journal of urology.
[94] P. D'eufemia,et al. Usefulness of cyanide-nitroprusside test in detecting incomplete recessive heterozygotes for cystinuria: a standardized dilution procedure , 1998, Urological Research.
[95] J. Gelpí,et al. Obligatory Amino Acid Exchange via Systems bo,+-like and y+L-like , 1996, The Journal of Biological Chemistry.
[96] N. Arber,et al. Mutations in the SLC3A1 transporter gene in cystinuria. , 1995, American journal of human genetics.
[97] F. Santos,et al. Effect of a low sodium diet on urinary elimination of cystine in cystinuric children. , 1995, Nephron.
[98] X. Estivill,et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine , 1994, Nature Genetics.
[99] G. Katz,et al. Extracorporeal shock wave lithotripsy for treatment of ureterolithiasis in patients with cystinuria. , 1993, British journal of urology.
[100] J. Kvist Kristensen,et al. Painful caliceal calculi. The treatment of small nonobstructing caliceal calculi in patients with symptoms. , 1993, Scandinavian journal of urology and nephrology.
[101] M. Barnett,et al. Cystinuria and renal transplantation. , 1993, Nephron.
[102] T. Skogh,et al. Membranous glomerulonephritis induced by 2-mercaptopropionylglycine (2-MPG). , 1990, Clinical Nephrology.
[103] R. Norman,et al. Dietary restriction of sodium as a means of reducing urinary cystine. , 1990, The Journal of urology.
[104] K. Sakhaee,et al. The spectrum of metabolic abnormalities in patients with cystine nephrolithiasis. , 1989, The Journal of urology.
[105] D. Rabier,et al. Age-related reference values for free amino acids in first morning urine specimens. , 1988, Clinical chemistry.
[106] S. Dretler,et al. Stone fragility--a new therapeutic distinction. , 1988, The Journal of urology.
[107] J. Zerwekh,et al. Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine. , 1986, The Journal of urology.
[108] L. Rosenberg,et al. Anticystinuric effects of glutamine and of dietary sodium restriction. , 1986, The New England journal of medicine.
[109] I. Jaffe. Adverse effects profile of sulfhydryl compounds in man. , 1986, The American journal of medicine.
[110] C. Peterson,et al. The effect of dietary protein on cystine excretion in patients with cystinuria. , 1984, Clinical nephrology.
[111] K. Sakhaee,et al. Contrasting effects of potassium citrate and sodium citrate therapies on urinary chemistries and crystallization of stone-forming salts. , 1983, Kidney International.
[112] C. Pak,et al. Assessment of cystine solubility in urine and of heterogeneous nucleation. , 1983, The Journal of urology.
[113] J. G. Marshall,et al. Free amino acid analysis of untimed and 24-h urine samples compared. , 1980, Clinical chemistry.
[114] L. Watson,et al. Treatment of Cystinuria , 1965, Revista clinica espanola.
[115] J. L. Durant,et al. Cystinuria: biochemical evidence for three genetically distinct diseases. , 1966, The Journal of clinical investigation.
[116] R. Watts,et al. Effect of Penicillamine on Cystinuria , 1963, British medical journal.