, Hospices Civils de Lyon, Centre de référence des maladies rénales rares Néphrogones, hôpital Femme-Mère-Enfant

, Division of Nephrology and Dialysis, Children's Hospital Bambino Gesù, IRCCS, Roma, Italy. 8 Children's Hospital, Hannover Medical School, issue.7, p.16, 2014.

L. Hospital-de-ninos-ludovica-la-plata and A. Plata, 17 Department of Pediatrics of Gulhane Military, Gulhane, Turkey. 18 Division of nephrology, Children's hospital of Eastern Ontario, Ottawa, Canada. 19 Centre de référence des maladies rénales rares -Néphrogones, Hôpital Femme-Mère-Enfant, vol.59

W. A. Gahl, J. G. Thoene, J. A. Schneider, and . Cystinosis, The Cystinosis Collaborative Research Group. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17, N Engl J Med, vol.347, pp.246-254, 1995.

M. Town, G. Jean, and S. Cherqui, A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis, Nat Genet, vol.18, pp.319-343, 1998.

M. B. Stokes, S. Jernigan, and D. Vd, Infantile nephropathic cystinosis, Kidney Int, vol.73, pp.782-788, 2008.
DOI : 10.1038/sj.ki.5002730

URL : https://doi.org/10.1038/sj.ki.5002730

G. Nesterova and W. Gahl, Nephropathic cystinosis: late complications of a multisystemic disease, Pediatr Nephrol, vol.23, pp.863-78, 2008.

F. Manz and N. Gretz, Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis, European collaborative study on Cystinosis. Pediatr Nephrol, vol.8, pp.466-71, 1994.

M. Broyer, M. Guillot, M. C. Gubler, and R. Habib, Infantile cystinosis: a reappraisal of early and late symptoms, Adv Nephol Necker Hosp, vol.10, pp.137-66, 1981.

C. P. Manohey and G. E. Striker, Early development of the renal lesions in infantile cystinosis, Pediatr Nephrol, vol.15, pp.50-56, 2000.

G. Nesterova and W. A. Gahl, Cystinosis: the evolution of a treatable disease, Pediatr Nephrol, vol.28, pp.51-60, 2013.

W. A. Gahl, Early oral cysteamine therapy for nephropathic cystinosis, Eur J Pediatr, vol.162, pp.38-41, 2003.
DOI : 10.1007/s00431-003-1349-x

M. Greco, M. Brugnara, M. Zaffanello, A. Taranta, A. Pastore et al., Longterm outcome of nephropathic cystinosis: a 20-year single-center experience, Pediatr Nephrol, vol.25, pp.2459-67, 2010.

R. Kleta, I. Bernardini, and M. Ueda, Long-term follow-up of well-treated nephropathic cystinosis patients, J Pediatr, vol.145, pp.555-60, 2004.

M. J. Wilmer, J. P. Schoeber, L. P. Van-den-heuvel, and E. N. Levtchenko, Cystinosis: practical tools for diagnosis and treatment, Pediatr Nephrol, vol.26, pp.205-220, 2011.

T. C. Markello, I. M. Bernardini, and W. A. Gahl, Improved renal function in children with cystinosis treated with cysteamine, N Engl J Med, vol.328, pp.1157-62, 1993.

W. A. Gahl, G. F. Reed, and J. G. Thoene, Cysteamine therapy for children with nephropathic cystinosis, N Engl J Med, vol.316, pp.971-978, 1987.
DOI : 10.1056/nejm198704163161602

F. Emma, G. Nesterova, C. Langman, A. Labbé, S. Cherqui et al., Nephropathic cystinosis : an international consensus document, Nephrol Dial Transplant, vol.29, pp.87-94, 2014.
DOI : 10.1093/ndt/gfu090

URL : https://academic.oup.com/ndt/article-pdf/29/suppl_4/iv87/7638838/gfu090.pdf

M. H. Vaisbich and V. H. Koch, Report of a Brazilian multicenter study on nephropathic cystinosis, Nephron Clin Pract, vol.114, pp.12-20, 2010.

D. Al-nabhani, M. El-naggari, A. , R. Chacko, A. P. Ganesh et al., El Nour I. Nephropathic cystinosis: first reported case in Oman, Sultan Qaboos Univ Med J, vol.11, pp.503-509, 2011.

M. El-naggari, I. Elnour, H. Al-kindy, A. -. Shahrabally, A. Abdelmogheth et al., Successful management of a neglected case of nephropathic cystinosis, Sultan Qaboos Univ Med J, vol.14, pp.245-253, 2014.

N. A. Soliman, R. El-baroudy, A. Rizk, H. Bazaraa, and A. Younan, Nephropathic cystinosis in children: an overlooked disease, Saudi J Kidney Dis Transpl, vol.20, pp.436-478, 2009.

N. A. Soliman, H. M. Bazaraa, H. M. Hamid, A. Hamid, R. Badawi et al., Nephropathic cystinosis in a developing country: the Egyptian experience, Saudi J Kidney Dis Transpl, vol.24, issue.1, pp.147-156, 2013.

N. A. Soliman, M. A. Elmonem, L. Van-den-heuvel, A. Hamid, R. H. Gamal et al., Mutational sepctrum of the CTNS gene in Egyptian patients with nephropathic cystinosis, J Inherit Metab Dis, vol.14, pp.87-97, 2014.

R. Topaloglu, E. Baskin, and E. Bahat, Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features, Clin Exp Nephrol, vol.15, pp.108-121, 2011.

M. Bana-behbahani, Infantile cystinosis, Indian Pediatr, vol.40, pp.21-25, 2003.

A. Bertholet-thomas, J. Bacchetta, V. Tasic, and P. Cochat, Nephropathic cystinosis -a gap between developing and developed nations, N Engl J Med, vol.370, issue.14, pp.1366-1373, 2014.

M. Sempé, G. Pédron, and R. Mp, Auxologie méthode et séquences, 1979.

G. J. Schwartz, A. Muñoz, M. F. Schneider, R. H. Mak, F. Kaskel et al., New equations to estimate GFR in children with CKDJ, Am Soc Nephrol, vol.20, pp.629-666, 2009.

C. Langman, L. A. Greenbaum, and M. Sarwal, 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, vol.7, pp.1112-1132, 2012.

R. Dohil and B. L. Cabrera, Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up, Pediatr Nephrol, vol.28, pp.507-517, 2013.

C. Langman, L. Greenbaum, P. Grimm, M. Sarwal, P. Niaudet 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, vol.165, issue.3, pp.528-561, 2014.

C. Langman, B. A. Barshop, G. Deschênes, F. Emma, P. Goodyer et al., Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease": improving global outcomes (KDIGO) controversies conference, Kidney Int, vol.89, pp.1192-203, 2016.

A. Brodin-sartorius, M. J. Tête, P. Niaudet, C. Antignac, G. Guest et al., Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults, Kidney Int, vol.81, pp.179-89, 2012.

S. Cherqui, Cysteamine therapy: a treatment for cystinosis, not a cure, Kidney Int, vol.81, pp.127-136, 2012.

J. E. Coleman and A. R. Watson, Gastrostomy buttons for nutritional support in children with cystinosis, Pediatr Nephrol, vol.14, pp.833-839, 2000.

E. Wühl, D. Haffner, G. Offner, M. Broyer, W. Van't-hoff et al., for the European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis: Long-term treatment with growth hormone in short children with nephropathic cystinosis, J Pediatr, vol.138, pp.880-87, 2000.

G. Ariceta, E. Lara, J. A. Camacho, F. Oppenheimer, J. Vara et al., Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults, Nephrol Dial Transplant, vol.30, pp.475-80, 2015.

G. Ariceta, J. A. Camacho, M. Fernandez-obispo, A. Fernandez-polo, J. Garnez et al., Cystinosis in adult and adolescent patients: recommendations for the comprehensive care of cystinosis, Nefrologia, vol.35, pp.304-325, 2015.

J. A. Schneider, Treatment of cystinosis: simple in principle, difficult in practice, J Pediatr, vol.145, pp.436-444, 2004.

K. J. Van-stralen, E. F. Jager, and K. J. , Improvement in the renal prognosis in nephropathic cystinosis, Clin J Am Soc Nephrol, vol.6, pp.2485-91, 2011.

F. Harrison, B. A. Yeagy, C. J. Rocca, D. B. Kohn, D. R. Salomon et al., Hematopoiectic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis, Mol Ther, vol.21, pp.433-477, 2013.

C. J. Rocca, A. Kreymerman, S. N. Ur, K. E. Frizzi, S. Naphade et al., Treatment of inherited eye defects by systemic hematopoietic stell cell transplantation, Invest Ophtalmol Vis Sci, vol.56, pp.7214-7237, 2015.

G. Chevronnay, H. P. Janssens, V. Van-der-smissen, P. Rocca, C. J. Liao et al., Hematopoiectic stem cells transplantation can normalize thyroid function in a cystinosis mouse model, Endocrinology, vol.157, pp.1363-71, 2016.

S. O. Ekenze, H. Ekwunife, and B. I. Eze, The burden of pediatric malignant solid tumors in a developing country, J Trop Pediatr, vol.56, pp.111-115, 2010.