Cystinosis: a new perspective

References

• Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347:111–21.
   PubMed Web of Science ®Google Scholar
• Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, 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
• Levtchenko E, Van den Heuvel L, Emma F, Antignac C. Clinical utility gene card for: cystinosis. Eur J Hum Genet. 2014;22(5).
   Web of Science ®Google Scholar
• Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, et al. Nephropathic cystinosis an international consensus document. Nephrol Dial Transplant. 2014;29:iv87–iv94.
   PubMed Web of Science ®Google Scholar
• Baum M. The Fanconi Syndrome of cystinosis: insights into the pathophysiology. Pediatr Nephrol. 1998;12:492–7.
   PubMed Web of Science ®Google Scholar
• Brodehl J, Hagge W, Gellissen K. Changes in kidney function in cystinosis. I. Inulin, PAH and electrolyte clearance in various stages of the disease. Ann Paediatr. 1965;205:131–54.
   PubMedGoogle Scholar
• Levtchenko E, Monnens L. Development of Fanconi syndrome during infancy in a patient with cystinosis. Acta Paediatr. 2006;95:379–80.
   PubMed Web of Science ®Google Scholar
• Drube J, Schiffer E, Mischak H, Kemper MJ, Neuhaus T, Pape L, et al. Urinary proteome pattern in children with renal Fanconi Syndrome. Nephrol Dial Transplant. 2009;24(7):2161–9.
   PubMed Web of Science ®Google Scholar
• Wilmer MJ, Christensen EI, van den Heuvel LP, Monnens LA, Levtchenko EN. Urinary protein excretion pattern and renal expression of megalin and cubulin in neprhopathic cystinosis. Am J Kidney Dis. 2008;51:893–903.
   PubMed Web of Science ®Google Scholar
• Gahl WA. Cystinosis coming of age. Adv Pediatr. 1986;33:95–126.
   PubMedGoogle Scholar
• Chik CL, Friedman A, Merriam GR, Gahl WA. Pituitary-testicular function in nephropathic cystinosis. Ann Intern Med. 1993;119;568–75.
   PubMed Web of Science ®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
• Fivush B, Green OC, Porter CC, Balfe JW, O’Regan S, Gahl WA. Pancreatic endocrine insufficiency in posttransplant cystinosis. Am J Dis Child. 1987;141:1087–9.
   PubMedGoogle Scholar
• Robert JJ, Tête MJ, Guest G, Gagnadoux MF, Niaudet P, Broyer M. Diabetes mellitus in patients with infantile cystinosis after renal transplantation. Pediatr Nephrol. 1999;13(6):524–9.
   PubMed Web of Science ®Google Scholar
• Winkler L, Offner G, Krull F, Brodehl J. Growth and pubertal development in nephropathic cystinosis. Eur J Pediatr. 1993;152:244–9.
   PubMed Web of Science ®Google Scholar
• Gahl WA, Dalakas MC, Charnas L, Chen KT, Pezeshkpour GH, Kuwabara T, et al. Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med. 1988;319:1461–4.
   PubMed Web of Science ®Google Scholar
• Trauner DA, Fahmy RF, Mishler DA. Oral motor dysfunction and feeding difficulties in nephropathic cystinosis. Pediatr Neurol. 2001;24:365–8.
   PubMed Web of Science ®Google Scholar
• Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Med (Baltimore). 2005;84:137–46.
   PubMed Web of Science ®Google Scholar
• Anikster Y, Lacbawan F, Brantly M, Gochuico BL, Avila NA, Travis W, et al. Pulmonary dysfunction in adults with nephropathic cystinosis. Chest. 2001;119:394–401.
   PubMed Web of Science ®Google Scholar
• Langman CB, Moore ES, Thoene JG, Schneider JA. Renal failure in a sibship with late-onset cystinosis. J Pediatr. 1985;107:755–6.
   PubMed Web of Science ®Google Scholar
• Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, et al. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res. 2000;47:17–23.
   PubMed Web of Science ®Google Scholar
• Jackson M, Young E. Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells. Prenat Diagn. 2005;25:1045–7.
   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
• Nesterova G, Gahl W. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013;28:51–9.
   PubMed Web of Science ®Google Scholar
• Levtchenko E, de Graaf-Hess A, Wilmer M, van den Heuvel L, Monnens L, Blom H. Comparison of cystine determination in mixed leucocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy. Clin Chem. 2004;50:1686–8.
   PubMed Web of Science ®Google Scholar
• Chabli A, Aupetit J, Rachm M, Ricquier D, Chadefaux-Vekemans B. Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry. Clin Biochem. 2007;40:692–8.
   PubMed Web of Science ®Google Scholar
• Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine therapy. N Engl J Med. 1993;328:1157–62.
   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
• Brodin-Sartorius A, Tête MJ, Niaudet P, Antignac C, Guest G, Ottolenghi C, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2011;81:179–89.
   PubMed Web of Science ®Google Scholar
• Van Stralen KJ, Emma F, Jager KJ, Verrina E, Schaefer F, Laube G, et al. Improvement in the renal prognosis in nephropathic cystinosis. Clin J Am Soc Nephrol. 2011;6:2485–91.
   PubMed Web of Science ®Google Scholar
• Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, et al. Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr. 2004;145:555–60.
   PubMed Web of Science ®Google Scholar
• Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, et al. Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med. 1987;316:971–7.
   PubMed Web of Science ®Google Scholar
• Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA. Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab. 1995;80:3257–61.
   PubMed Web of Science ®Google Scholar
• Levtchenko E, Blom H, Wilmer M, van den Heuvel L, Monnens L. ACE inhibitor enalapril diminishes albuminuria in patients with cystinosis. Clin Nephrol. 2003;60:386–9.
   PubMed Web of Science ®Google Scholar
• Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA. Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest. 1976;58:180–9.
   PubMed Web of Science ®Google Scholar
• Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA, et al. Recent advances in the treatment of cystinosis. J Inherit Metab Dis. 1995;18:387–97.
   PubMed Web of Science ®Google Scholar
• Besouw MTP, Levtchenko Elena N. Improving the prognosis of nephropathic cystinosis. Int J Nephrol Renovasc Dis. 2014;7:297–302.
   PubMedGoogle Scholar
• Middleton R, Bradbury M, Webb N, O’Donoghue D, van’t Hoff W. 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
• Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, et al. Cysteamine toxicity in patients with cystinosis. J Pediatr. 2011;159;1004–11.
   Google Scholar
• Levtchenko EN, van Dael CM, de Graaf-Hess AC, Wilmer MJ, van den Heuvel LP, Monnens LA, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2006;21:110–3.
   PubMed Web of Science ®Google Scholar
• Dohil M, Fidler M, Barshop BA, Gangoiti J, Deutsch R, Martin M, et al. Understanding intestinal cysteamine bitartrate absorption. J Pediatr. 2006;148:764–9.
   PubMed Web of Science ®Google Scholar
• Dohil R, Fidler M, Barshop B, Newbury R, Sellers Z, Deutsch R, et al. Esomeprazole therapy for gastric acid hypersecretion in children with Cystinosis. Pediatr Nephrol. 2005;12:56–98.
   Google Scholar
• Besouw M, Blom H, Tangerman A, de Graaf-Hess A, Levtchenko E. The origin of halithosis in cystinotic patients due to cysteamine treatment. Mol Gen Metab. 2007;91:228–33.
   PubMed Web of Science ®Google Scholar
• Dohil R, Fidler M, Gangoiti JA, Kaskel F, Schneider JA, Barshop BA. Twice-daily Cysteamine Bitartrate Therapy for Children with Cystinosis. J Pediatr. 2010;156(1):71–5.
   PubMed Web of Science ®Google Scholar
• Langman CB, Greenbaum LA, Sarwal M, Grimm P, Niaudet P, Deschênes G, 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
• Besouw M, Tangerman A, Cornelissen E, Rioux P, Levtchenko E. Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. Mol Genet Metab. 2012;107:234–6.
   PubMed Web of Science ®Google Scholar
• Langman C, Rioux P, Greenbaum L, et al. Extended treatment of patients with cystinosis and CKD with RP103 demonstrates efficacy and safety. Pediatr Nephrol. 2013;28:1363.
   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
• Langman CB, Greenbaum LA, Grimm P, Sarwal M, Niaudet P, Deschenes G, et al. Quality of Life is improved and Kindey function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate. J Pediatr. 2014;165(3):528–33.
   PubMed Web of Science ®Google Scholar
• Doyle M, Werner-Lin A. That eagle covering me: transitioning and connected autonomy for emerging adults with cystinosis. Pediatr Nephrol. 2014.
   PubMedGoogle Scholar