A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis

References

• Town M, Jean G, Cherqui S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998;18:319-24
   PubMed Web of Science ®Google Scholar
• Emma F, Nesterova G, Langman C, et al. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant 2014;29(Suppl4):iv87-94
   Web of Science ®Google Scholar
• Greco M, Brugnara M, Zaffanello M, et al. Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. Pediatr Nephrol 2010;25:2459-67
   PubMed Web of Science ®Google Scholar
• Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med 2002;347:111-21
   PubMed Web of Science ®Google Scholar
• Wen S, Fu X, Li G, et al. Efficacy of tamoxifen in combination with docetaxel in patients with advanced non-small-cell lung cancer pretreated with platinum-based chemotherapy. Anticancer Drugs 2016;27:447-56
   PubMed Web of Science ®Google Scholar
• Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 2007;147:242-50
   PubMed Web of Science ®Google Scholar
• Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol 2008;23:863-78
   PubMed Web of Science ®Google Scholar
• Brodin-Sartorius A, Tete MJ, Niaudet P, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int 2012;81:179-89
   PubMed Web of Science ®Google Scholar
• Ulmer FF, Landolt MA, Vinh RH, et al. Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. Pediatr Nephrol 2009;24:1371-8
   PubMed Web of Science ®Google Scholar
• Elenberg P., ed. Quality of life in cystinosis patients. 44th Annual Scientific Meeting of the European Society for Paediatric Nephrology, Dubrovnik, Croatia, 2011
   Google Scholar
• Manz F, Gretz N. Cystnosis in the Federal Republic of Germany. Coordinaton and analysis of the data. J Inherit Metab Dis 1985;8:2-4
   PubMed Web of Science ®Google Scholar
• Wilmer MJ, Schoeber JP, Van Den Heuvel LP, Levtchenko EN. Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol 2011;26:205-15
   PubMed Web of Science ®Google Scholar
• Cherqui S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int 2012;81:127-9
   PubMed Web of Science ®Google Scholar
• Cairns D, Anderson RJ, Coulthard M, Terry J. Cystinosis and its treatment. Pharmaceutical J 2002;269:615-16
   Google Scholar
• Dohil R, Newbury RO, Sellers ZM, et al. The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine. J Pediatr 2003;143:224-30
   PubMed Web of Science ®Google Scholar
• Besouw M, Blom H, Tangerman A, et al. The origin of halitosis in cystinotic patients due to cysteamine treatment. Mol Genet Metabol 2007;91:228-33
   PubMed Web of Science ®Google Scholar
• Daley T, Starr C, Squiers E. eds. Need for and development of alternative cysteamine dose formulation. 5th International Cystinosis Conference, Dublin, Ireland, 2008
   Google Scholar
• Cystinosis Research Foundation 2012. Available at: https://cystinosis.org/images/what-is/Cystinosis%20Standards%20of%20Care%20June%2019%202012.pdf. Accessed on 16th May 2016
   Google Scholar
• Ariceta G, Lara E, Camacho JA, et al. Cysteamine (Cystagon) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults. Nephrol Dial Transplant 2015;30:475-80
   PubMed Web of Science ®Google Scholar
• Rioux P, Gangoiti J. Correlation of plasma cysteamine and WBC cystine levels at steady state in patients treated with cysteamine bitartrate. Molecular Genetics and Metabolism Conference: 6th Annual Research Meeting of the Lysosomal Disease Network’s. WORLD Symposium 2010;99:S32-S3
   Google Scholar
• Langman CB, Greenbaum LA, Sarwal M, et al. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol 2012;7:1112-20
   PubMed Web of Science ®Google Scholar
• Langman CB, Greenbaum LA, Grimm P, et al. Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate. J Pediatr 2014;165:528-33
   PubMed Web of Science ®Google Scholar
• OCEBM Levels of Evidence Working Group. The Oxford Levels of Evidence 2. 2011. Available at: http://www.cebm.net/index.aspx?o=5653. Accessed on 16th May 2016
   Google Scholar
• Soohoo N, Schneider JA, Kaplan RM. A cost-effectiveness analysis of the orphan drug cysteamine in the treatment of infantile cystinosis. Med Decision Making 1997;17:193-8
   PubMed Web of Science ®Google Scholar
• Ueda M, O'Brien K, Rosing DR, et al. Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol 2006;1:555-62
   PubMed Web of Science ®Google Scholar
• Gagnadoux MF, Tete MJ, Broyer M. Prevention of cystinosis hepatosplenic complications by cysteamine (Cystagon). Medecine et Chirurgie Digestives 1998;27:155-6
   Google Scholar
• Schneider JA, Clark KF, Greene AA, et al. Recent advances in the treatment of cystinosis. J Inherit Metab Dis 1995;18:387-97
   PubMed Web of Science ®Google Scholar
• Geelen JM, Monnens LA, Levtchenko EN. Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant 2002;17:1766-70
   PubMed Web of Science ®Google Scholar
• Nesterova G, Williams C, Bernardini I, Gahl WA. Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy. Pediatr Nephrol 2015;30:945-51
   PubMed Web of Science ®Google Scholar
• Chiavérini C, Kang HY, Sillard L, et al. In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis. J Am Acad Dermatol 2013;68:e111-16
   PubMed Web of Science ®Google Scholar
• Dohil R, Fidler M, Barshop BA, et al. Understanding intestinal cysteamine bitartrate absorption. J Pediatr 2006;148:764-9
   PubMed Web of Science ®Google Scholar
• Belldina EB, Huang MY, Schneider JA, et al. Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients. Br J Clin Pharmacol 2003;56:520-5
   PubMed Web of Science ®Google Scholar
• Bouazza N, Tréluyer JM, Ottolenghi C, et al. Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients. Orphanet J Rare Dis 2011;6:86
   PubMed Web of Science ®Google Scholar
• Dohil R, Fidler M, Gangoiti JA, et al. Twice-daily cysteamine bitartrate therapy for children with cystinosis. J Pediatr 2010;156:71-5
   PubMed Web of Science ®Google Scholar
• NCT00359684. Use of Cysteamine in the Treatment of Cystinosis. Available at: https://clinicaltrials.gov/ct2/show/NCT00359684. Accessed on 17th May 2016
   Google Scholar
• Besouw MT, Kremer JA, Janssen MC, Levtchenko EN. Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril 2010;93:1880-3
   PubMed Web of Science ®Google Scholar
• Sonies BC, Almajid P, Kleta R, et al. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine 2005;84:137-46
   PubMed Web of Science ®Google Scholar
• Pache de Faria Guimaraes L, Seguro AC, Shimizu MH, et al. N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis. Pediatr Nephrol 2013;29:1097-102
   PubMed Web of Science ®Google Scholar
• Dohil R, Carrigg A, Newbury R. A potential new method to estimate tissue cystine content in nephropathic cystinosis. J Pediatr 2012;161:531-5
   PubMed Web of Science ®Google Scholar
• Dohil R, Fidler M, Barshop B, et al. Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. Pediatr Nephrol 2005;20:1786-93
   PubMed Web of Science ®Google Scholar
• Ariceta G, Lara E, Camacho JA, et al. Cystagon adherence in patients with cystinosis: determinant factors and age effect. Pediatric Nephrology Conference. IPNA Congress 2013;28:1533–1689
   Google Scholar
• Beinart N, Hackett RA, Graham CD, et al. Mood and illness experiences of adults with cystinosis. Renal Failure 2015;37:835-9
   PubMed Web of Science ®Google Scholar
• Levtchenko EN, van Dael CM, de Graaf-Hess AC, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol 2006;21:110-13
   PubMed Web of Science ®Google Scholar
• Vaisbich MH, Koch VH. Report of a Brazilian multicenter study on nephropathic cystinosis. Nephron. 2010;114(1):c12-18
   PubMed Web of Science ®Google Scholar
• Langman CB, Greenbaum LA, Sarwal M, et al. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol 2010;7:1112-20
   Web of Science ®Google Scholar
• Anonymous. Erratum to a randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol 2013;8:468
   Web of Science ®Google Scholar
• Besouw M, Tangerman A, Cornelissen E, et al. Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. Mol Genet Metabol 2012;107:234-6
   PubMed Web of Science ®Google Scholar
• NCT01000961. Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon in Patients With Cystinosis. Available at: https://clinicaltrials.gov/ct2/show/NCT01000961. Accessed on 16th May 2016
   Google Scholar
• EudraCT2009-017882-42. A Randomized, Crossover, Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon in Patients with Nephropathic Cystinosis. Available at: https://www.clinicaltrialsregister.eu/ctr-search/trial/2009-017882-42/FR. Accessed on 16th May 2016
   Google Scholar
• NCT01197378. Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103). Available at: https://clinicaltrials.gov/ct2/show/NCT01197378. Accessed on 16th May 2016
   Google Scholar
• EUCTR2010-018365-34-NL. A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic Cystinosis. Available at: https://www.clinicaltrialsregister.eu/ctr-search/search?query=eudract_number:2010-018365-34. Accessed on 16th May 2016
   Google Scholar
• Langman C, Rioux P, Greenbaum L, et al. Extended treatment of patients with cystinosis and CKD with RP103 demonstrates efficacy and safety. Pediatric Nephrology Conference: IPNA Congress 2013;28:1533–1689
   Google Scholar
• NCT01733316. Open-Label Safety & Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cystinosis. Available at: https://clinicaltrials.gov/ct2/show/NCT01733316. Accessed on 17th May 2016
   Google Scholar
• NCT00872729. Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon in Patients With Cystinosis. Available at: https://clinicaltrials.gov/ct2/show/NCT00872729. Accessed on 17th May 2016
   Google Scholar
• Rioux P, Barshop B. An open-label study to assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of cysteamine bitartrate delayed-release capsules (RP103), compared to cysteamine bitartrate capsules, (Cystagon) in patients with nephropathic cystinosis. Pediatric Nephrology Conference: 2nd International Cystinosis Research Symposium Irvine, CA, United States. Conference Start 2010. Pediatr Nephrol 2010;25:2195–2216
   Google Scholar
• Gaillard S, Roche L, Kassai B, et al. A French cohort of patients with cystinosis: variability in the compliance to two formulations of cysteamine, use of electronic monitoring devices. Pediatr Nephrol 2016;31:1723–1764
   Google Scholar
• NCT02012114. A Cohort of Patients With Cystinosis: Compliance to Cysteamine and Neurological Complications (Crystobs). Available at: https://clinicaltrials.gov/ct2/show/NCT02012114. Accessed on 17th May 2016
   Google Scholar
• EUCTR2010-020098-18-FR. CrYSTobs A cohort of patients with cystinosis: compliance to cysteamine and neurological complications. An auxiliary study to Raptor RP103 03 and RP103 04. Available at: https://www.clinicaltrialsregister.eu/ctr-search/search?query=eudract_number:2010-020098-18. Accessed on 17th May 2016
   Google Scholar
• NCT01744782. Safety/Effectiveness Study of Cysteamine Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis. Available at: https://clinicaltrials.gov/ct2/show/NCT01744782. Accessed on 17th May 2016
   Google Scholar
• Ahmad ZP, Johnstone LM, Walker AM. Cystinosis and lupus erythematosus: coincidence or causation. Pediatr Nephrol 2010;25:1543-6
   PubMed Web of Science ®Google Scholar
• Berger JR, Dillon DA, Young BA, Goldstein SJ, et al. Cystinosis of the brain and spinal cord with associated vasculopathy. J Neurol Sci 2009;284:182-5
   PubMed Web of Science ®Google Scholar
• Besouw M, Levtchenko E. Pharmacokinetics of cysteamine in a cystinosis patient treated with hemodialysis. Pediatr Nephrol 2011;26:639-40
   PubMed Web of Science ®Google Scholar
• Besouw MT, Van Dyck M, Cassiman D, et al. Management dilemmas in pediatric nephrology: cystinosis. Pediatr Nephrol 2015;30:1349-60
   PubMed Web of Science ®Google Scholar
• Besouw MT, Bowker R, Dutertre JP, et al. Cysteamine toxicity in patients with cystinosis. J Pediatr 2011;159:1004-11
   PubMed Web of Science ®Google Scholar
• Cameron C, Greenbaum L, Sato T, et al. Renal cell carcinoma in a patient with cystinosis and inflammatory bowel disease: a case report. Pediatr Nephrol 2008;23:1167-70
   PubMed Web of Science ®Google Scholar
• Chung JY, Bunchman TE, Barshop BA, et al. Kinetics of cysteamine bitartrate in an anephric patient on hemodialysis. Pediatric Nephrology Conference: 15th Congress of the International Pediatric Nephrology Association. IPNA 2010;25:1779–2004
   Google Scholar
• Corden BJ, Schulman JD, Schneider JA, Thoene JG. Adverse reactions to oral cysteamine use in nephropathic cystinosis. Dev Pharmacol Therapeut 1981;3:25-30
   PubMedGoogle Scholar
• Eroglu FK, Besbas N, Ozaltin F, et al. Lupus in a patient with cystinosis: is it drug induced? Lupus 2015;24:1452-4
   PubMed Web of Science ®Google Scholar
• Gahl WA, Charnas L, Markello TC, et al. Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem Med Metab Biol 1992;48:275-85
   PubMedGoogle Scholar
• Kleta R, Bernardini I, Ueda M, et al. Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 2004;145:555-60
   PubMed Web of Science ®Google Scholar
• Klusmann M, Van't Hoff W, Monsell F, Offiah AC. Progressive destructive bone changes in patients with cystinosis. Skeletal Radiol 2014;43:387-91
   Web of Science ®Google Scholar
• Middleton R, Bradbury M, Webb N, et al. Cystinosis. A clinicopathological conference. ‘From toddlers to twenties and beyond’ Adult-Paediatric Nephrology Interface Meeting, Manchester 2001. Nephrol Dial Transplant 2003;18:2492-5
   PubMed Web of Science ®Google Scholar
• Müller M, Baumeier A, Ringelstein EB, Husstedt IW. Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature. J Med Case Rep 2008;2:235
   PubMedGoogle Scholar
• Sadek Sherif A, El-Tantawy Amira, Nasr Morad Infantile nephropathic cystinosis: case series and review of literature. Kuwait Med J 2013;45:55-9
   Web of Science ®Google Scholar
• Sfaihi L, Aloulou H, Ben Amor S, et al. Nephropathic infantile form of cystinosis about one case. Fetal Pediatr Pathol 2013;32:66-70
   Web of Science ®Google Scholar
• Soliman NA, El-Baroudy R, Rizk A, et al. Nephropathic cystinosis in children: an overlooked disease. Saudi J Kidney Dis Transplant 2009;20:436-42
   PubMedGoogle Scholar
• Levtchenko EN, de Graaf-Hess A, Blom HJ, Monnens LAH. Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome. Clin Nephrol 2002;57:349-51
   PubMed Web of Science ®Google Scholar
• Dohil R, Cabrera BL. Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. Pediatr Nephrol 2013;28:507-10
   PubMed Web of Science ®Google Scholar
• Dohil R, Gangoiti JA, Cabrera BL, et al. Long-term treatment of cystinosis in children with twice-daily cysteamine. J Pediatr 2010;156:823-7
   PubMed Web of Science ®Google Scholar
• Dohil R. Developing delayed-release cysteamine bitartrate. Pediatric Nephrology Conference: 2nd International Cystinosis Research Symposium Irvine, CA, United States. Conference Start 2010;25:2195-6
   Google Scholar
• Walczak J, Stelmachowski J, Obrzut G, Hubert A. Cost-effectiveness analysis of cysteamine in the treatment of patients with cystinosis – a rare disease. Value in Health Conference: ISPOR 16th Annual European Congress, Dublin, Ireland. Conference Start 2013;16:A383
   Google Scholar
• Andersson HC, Markello T, Schneider JA, Gahl WA. Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease. J Pediatr 1992;120:716-20
   PubMed Web of Science ®Google Scholar
• Gahl WA, Bercu BB. Blunted prolactin response to thyrotropin-releasing hormone stimulation in cystinotic children receiving cysteamine. J Clin Endocrinol Metabol 1985;60:793-6
   PubMed Web of Science ®Google Scholar
• Wühl E, Haffner D, Gretz N, et al. Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: no evidence for increased deterioration rate of renal function. The European Study Group on Growth Hormone Treatment in Short Children with Nephropathic Cystinosis. Pediatr Res 1998;43(4 Pt 1):484-8
   Web of Science ®Google Scholar
• Sonies BC, Ekman EF, Andersson HC, et al. Swallowing dysfunction in nephropathic cystinosis. N Engl J Med 1990;323:565-70
   PubMed Web of Science ®Google Scholar
• Yudkoff M, Foreman JW, Segal S. Effects of cysteamine therapy in nephropathic cystinosis. N Engl J Med 1981;304:141-5
   PubMed Web of Science ®Google Scholar
• Berryhill A, Bhamre S, Chaudhuri A, et al. Cysteamine in renal transplantation: a report of two patients with nephropathic cystinosis and the successful re-initiation of cysteamine therapy in the immediate posttransplant period. Pediatric Transplantation Conference: 8th Congress on Pediatric Transplantation. IPTA 2015;19:108
   Google Scholar
• Cohen C, Charbit M, Chadefaux B, et al. Outcome of renal transplantation in adult cystinosis patients. Journal of Inherited Metabolic Disease Conference: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. SSIEM 2014;37(Suppl 1):S27–S185
   Google Scholar
• Gultekingil Keser A, Topaloglu R, Bilginer Y, Besbas N. Long-term endocrinologic complications of cystinosis. Minerva Pediatrica 2014;66:123-30
   PubMed Web of Science ®Google Scholar
• Kimonis VE, Troendle J, Rose SR, et al. Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metabol 1995;80:3257-61
   PubMed Web of Science ®Google Scholar
• Sikora P, Bienias B, Majewski M, et al. Nephropathic cystinosis – a single pediatric center experience. Pediatric Nephrology Conference: 47th European Society for Paediatric Nephrology, ESPN Congress, Porto, Portugal. Conference Start 2014;29:1649-1867
   Google Scholar
• Tsilou ET, Rubin BI, Reed G, et al. Nephropathic cystinosis. Posterior segment manifestations and effects of cysteamine therapy. Ophthalmology 2006;113:1002-9
   Google Scholar
• van't Hoff WG, Gretz N. The treatment of cystinosis with cysteamine and phosphocysteamine in the United Kingdom and Eire. Pediatr Nephrol 1995;9:685-9
   PubMed Web of Science ®Google Scholar
• Besouw MTP, Van Dyck M, Francois I, et al. Detailed studies of growth hormone secretion in cystinosis patients. Pediatr Nephrol 2012;27:2123-7
   PubMed Web of Science ®Google Scholar
• Viltz L, Trauner DA. Effect of age at treatment on cognitive performance in patients with cystinosis. J Pediatr 2013;163:489-92
   PubMed Web of Science ®Google Scholar
• de Graaf-Hess A, Trijbels F, Blom H. New method for determining cystine in leukocytes and fibroblasts. Clin Chem 1999;45:2224-8
   PubMed Web of Science ®Google Scholar
• Schneider JA. Evaluation of specific therapies for cystinosis. Progr Clin Biol Res 1983;127:115-24
   PubMedGoogle Scholar
• Jonas AJ, Schneider JA. Plasma cysteamine concentrations in children treated for cystinosis. J Pediatr 1982;100:321-3
   PubMed Web of Science ®Google Scholar
• Gahl WA, Gregg RE, Hoeg JM, Fisher E. In vivo alteration of a mutant human protein using the free thiol cysteamine. Am J Med Genet 1985;20:409-17
   PubMed Web of Science ®Google Scholar
• Smolin LA, Clark KF, Thoene JG, et al. A comparison of the effectiveness of cysteamine and phosphocysteamine in elevating plasma cysteamine concentration and decreasing leukocyte free cystine in nephropathic cystinosis. Pediatr Res 1988;23:616-20
   PubMed Web of Science ®Google Scholar
• Besouw MT, Holewijn S, Levtchenko EN, Janssen MC. Non-invasive measurements of atherosclerosis in adult cystinosis patients. J Inherit Metab Dis 2011;34:811-18
   PubMed Web of Science ®Google Scholar
• Besouw MT, Schneider J, Janssen MC, et al. Copper deficiency in patients with cystinosis with cysteamine toxicity. J Pediatr 2013;163:754-60
   PubMed Web of Science ®Google Scholar
• Besouw MT, Hulstijn-Dirkmaat GM, van der Rijken RE, et al. Neurocognitive functioning in school-aged cystinosis patients. J Inherit Metab Dis 2010;33:787-93
   PubMed Web of Science ®Google Scholar
• Almond PS, Matas AJ, Nakhleh RE, et al. Renal transplantation for infantile cystinosis: long-term follow-up. J Pediatr Surg 1993;28:232-8
   PubMed Web of Science ®Google Scholar
• Andrews PA, Sacks SH, van't Hoff W. Successful pregnancy in cystinosis. J Am Med Assoc 1994;272:1327-8
   Web of Science ®Google Scholar
• Avner ED, Ellis D, Jaffe R. Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. J Pediatr 1983;102:793-6
   PubMed Web of Science ®Google Scholar
• Bacchetta J, Bertholet-thomas A, Abelingenevois K, et al. Bone impairment in nephropathic cystinosis: a report on two clinical cases. Pediatric Nephrology Conference: 47th European Society for Paediatric Nephrology, ESPN Congress, Porto, Portugal. Conference Start 2014;29:1649-1867
   Google Scholar
• Broyer M, Tête MJ, Guest G, et al. Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J Inherit Metab Dis 1996;19:65-75
   PubMed Web of Science ®Google Scholar
• Broyer M, Tete MJ. [Treatment of cystinosis using cysteamine]. Annales de Pediatrie 1990;37:91-3
   PubMedGoogle Scholar
• Broyer M, Tete MJ. Delayed complications of cystinosis. A review of 33 patients older than 18 years. Annales de Pediatrie 1995;42:635-41
   Google Scholar
• Cantani A, Giardini O, Ciarnella Cantani A. Nephropathic cystinosis: ineffectiveness of cysteamine therapy for ocular changes. Am J Ophthalmol 1983;95:713-14
   PubMed Web of Science ®Google Scholar
• DiDomenico P, Berry G, Bass D, et al. Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. J Inherit Metab Dis 2004;27:693-9
   PubMed Web of Science ®Google Scholar
• Dongo E, Magyar M, Aradi G, et al. Neurological complications of nephropathic cystinosis in a young female adult – case report. European Journal of Neurology Conference: 1st Congress of the European Academy of Neurology, Berlin, Germany. Conference Start 2015;22:552
   Google Scholar
• Emadi A, Burns KH, Confer B, et al. Hematological manifestations of nephropathic cystinosis. Acta Haematologica 2008;119:169-72
   PubMed Web of Science ®Google Scholar
• Girardin EP, DeWolfe MS, Crocker JF. Treatment of cystinosis with cysteamine. J Pediatr 1979;94:838-40
   PubMed Web of Science ®Google Scholar
• Kagnici M, Canda E, Kose M, et al. Infantile nephropathic cystinosis with severe gastrointestinal manifestations: a case report. Journal of Inherited Metabolic Disease Conference: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. SSIEM 2014;37(Suppl 1):S27–S185
   Google Scholar
• Kartamysheva NN, Karagulian NA, Sevostyanov KV, et al. Diagnosis and treatment of cystinosis in Russia. Pediatric Nephrology Conference. IPNA Congress 2013;28:1533–1689
   Google Scholar
• Kastrup O, Koeppen S, Schwechheimer K, et al. Myopathy in two siblings with nephropathic cystinosis. Eur J Neurol 1998;5:609-12
   PubMed Web of Science ®Google Scholar
• Kolthof HJ, Tjeenk-Kalff AC. A nine-year-old girl with cystinosis and severe memory problems: a drug or disease effect? J Pediatr Neurol 2007;5:335-41
   Google Scholar
• Krischock LA, Horsfeld C, Rigden SPA. Drug-induced lupus secondary to cysteamine therapy and antiphospholipid syndrome in a paediatric renal allograft recipient. Pediatric Transplantation Conference: 5th Congress of the International Pediatric Transplant Association, Istanbul, Turkey. Conference Start 2009;13:84-5
   Google Scholar
• Lyou Y, Zhao X, Nangia CS. Pancytopenia in a patient with cystinosis secondary to myelosuppression from cystine crystal deposition: a case report. J Med Case Rep 2015;9:205
   PubMedGoogle Scholar
• Marquardt L, Kuramatsu JB, Roesch J, et al. Posterior reversible encephalopathy syndrome in cystinosis. Clin Neurol Neurosurg 2013;115:644-5
   PubMed Web of Science ®Google Scholar
• Ramappa AJ, Pyatt JR. Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis. Cardiology in the Young 2010;20:220-2
   PubMed Web of Science ®Google Scholar
• Reznik VM, Adamson M, Adelman RD, et al. Treatment of cystinosis with cysteamine from early infancy. J Pediatr 1991;119:491-3
   PubMed Web of Science ®Google Scholar
• Rizzo C, Ribes A, Pastore A, et al. Pyroglutamic aciduria and nephropathic cystinosis. J Inherit Metab Dis 1999;22:224-6
   PubMed Web of Science ®Google Scholar
• Rocha S, Martins LS, Vizcaíno R, et al. New-onset lupus nephritis in a kidney transplant recipient with cystinosis-differential diagnosis with cysteamine-induced lupus: case report. Transplant Proc 2011;43:2265-8
   PubMed Web of Science ®Google Scholar
• Rodríguez-Gómez FJ, López-Domónguez JM, Borrero-Martón JJ, et al. Cystinosis: an infrequent cause of distal myopathy. Revista de Neurologia 2005;40:156-8
   PubMed Web of Science ®Google Scholar
• Rossi S, Herrine SK, Navarro VJ. Cystinosis as a cause of noncirrhotic portal hypertension. Dig Dis Sci 2005;50:1372-5
   PubMed Web of Science ®Google Scholar
• Ruberto U, D'Eufemia P, Chiummariello R, Martino F. A case of nephropathic cystinosis in association with hyperlipaemia and treated with cysteamine. Minerva Pediatrica 1984;36:197-200
   PubMedGoogle Scholar
• Sirrs S, Munk P, Mallinson PI, et al. Cystinosis with sclerotic bone lesions. JIMD Rep 2014;13:27-31
   PubMedGoogle Scholar
• Strife CF, Strife JL, Wacksman J. Acquired structural genitourinary abnormalities contributing to deterioration of renal function in older patients with nephropathic cystinosis. Pediatrics 1991;88:1238-41
   PubMed Web of Science ®Google Scholar
• Vilaseca MA, Camacho JA, Briones P, et al. Biochemical follow-up in late-treated nephropathic cystinosis. J Inherit Metab Dis 1995;18:147-50
   PubMed Web of Science ®Google Scholar
• Ariceta G, Lara E, Madrid A, et al. Long-term outcome in cystinosis: prognosis is improved but growth failure persists in our series. Pediatric Nephrology Conference. IPNA Congress 2013;28:1628-9
   Google Scholar