Principles of Cystinosis Transition in Children
Journal of Pediatric Nephrology,
Vol. 8 No. 4 (2020),
21 Shahrivar 2020
,
Page 1-6
https://doi.org/10.22037/jpn.v8i4.31802
Abstract
Children with chronic illness need special care during the transition to adolescence and adulthood. Cystinosis is a chronic childhood disease characterized by chronic renal failure and multi-organ involvement. With advances in treatment and kidney transplantation methods, the life expectancy of these patients has been prolonged. Renal transplantation is performed for most of the patients in childhood. These patients are at risk of non-adherence due to multiple drug usage and their chronic disease. As a child enters adulthood, parental care decreases and the patient should learn self-management. So the likelihood of non-compliance and loss of kidney transplant is high in transition time. This article gives a brief overview on transition of cystinosis patients from childhood to adolescence and adulthood
- Cystinosis
- Child
- Adolescence
- Chronic Renal Failure
How to Cite
References
2. Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, et al. Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol, 2008 (294), 1101-1108.
3. Ruivo R, Bellenchi GC, Chen X, Zifarelli G, Sagné C, Debacker C, et al. Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. Proc Natl Acad Sci U S A. 2012 Jan 31, 109(5): 10-7.
4. Laube GF, Shah V, Stewart VC, Hargreaves IP, Haq MR, Heales SJ, Van’t Hoff WG. Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells. Pediatr Nephrol, 2006 (21): 503–509.
5. Levtchenko EN, Wilmer MJ, Janssen AJ, Koenderink JB, Visch HJ, Willems PH, et al. Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts. Pediatr Res, 2006 (59): 287–292.
6. Park MA, Pejovic V, Kerisit KG, Junius S, Thoene JG. Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase C delta. J Am Soc Nephrol, 2006 (17): 3167–3175.
7. Greco M, Brugnara M, Zaffanello M, Taranta A, Pastore A, Emma F. Long-term outcome of nephropathic cystinosis: a 20-year single-center experience, Pediatr Nephrol, 2010 (25): 2459-2467.
8. 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 2012, 81(2):179–189.
9. Cohen C, Charbit M, Chadefaux-Vekemans B, Giral M , Garrigue V , Kessler M. Excellent long-term outcome of renal transplantation in cystinosis patients. Orphanet Journal of Rare Diseases, 2015 (10):90.
10. Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gámez J, García-Villoria J, et al. A coordinated transition model for patients with cystinosis: from pediatric to adult care. Nefrologia, 2016; 36(6):616–630.
11. Ariceta G, Lara E , Camacho JA , Oppenheimer F, J Vara J, Santos F. Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults. Nephrol Dial Transplant, 2015 30: 475–480.
12. Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gámez J, García-Villoria J, et al. Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis. Nefrologia, 2015; 35(3):304-21.
13. Beier UH, Green C, Meyers KE. Caring for adolescent renal patients. Kidney Int. 2010 Feb; 77(4):285-91.
14. Ferris M.E, Miles J.A. Seamon M.L. Adolescents and Young Adults with Chronic or End-Stage Kidney Disease. Blood Purif, 2016; 41: 205-210.
15. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol, 2008, 23(6):863– 867.
16. Geelen JM, Monnens LAH, Levtchenko EN. Follow‐up and treatment of adults with cystinosis in the Netherlands. Nephrology Dialysis Transplantation, 2002, 17(10), 1766-1770.
17. Cohen C, Charbit M, Chadefaux-Vekemans B, Giral M , Garrigue V , Kessler M. Excellent long-term outcome of renal transplantation in cystinosis patients. Orphanet Journal of Rare Diseases, 2015, 10:90.
18. Tuchmam LK, Slap GB, Britto MT. Transition to adult care: experiences and expectations of adolescents with a chronic illness. Child: care, health and development, 2008 Sep; 34 (5): 557-563.
19. Raina R, Wang J, and Krishnappa V. Structured Transition Protocol for Children with Cystinosis. Front Pediatr, 2017 Aug (5); 191.
20. Spilkin A, Ballantyne A. Behavior in Children with a Chronic Illness: A Descriptive Study of Child Characteristics, Family Adjustment, and School Issues in Children with Cystinosis. Families, Systems, & Health. 2007, 25 (1), 68–84.
21. Cystinosis research network. Transition guide for teens and young adults with cystinosis and their families. www.Cystinosis.org.
22. Spilkin A, Ballantyne A. Behavior in children with a chronic illness: A descriptive study of child characteristics, family adjustment, and school issues in children with cystinosis. Families, Systems, & Health, 2007, psycnet.apa.org
23. Arnett JJ, Žukauskienė R, Sugimura K. The new life stage of emerging adulthood at ages 18–29 years: implications for mental health. Lancet Psychiatry 2014; 1: 569–76.
24. Van Stralen KJ, Emma F, Jager KJ, Verrina E, Schaefer F, Laube GF, et al. Improvement in the renal prognosis in nephropathic cystinosis, Clin J Am Soc Nephrol. 2011 Oct; 6(10):2485-91.
25. Elena Levtchenko. Endocrine Complications of Cystinosis. Journal of Pediatrics.2017 April.s5-8
26. Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol, 2013 (28):51–59.
27. Fivush B, Green OC, Porter CC, Balfe JW. Pancreatic Endocrine Insufficiency in posttransplant cystinosis. Am Dis Child, 1987 (10): 1087-1089.
28. Besouw MTP, Van dyck M, Francois I, Van Hoyweghen E, Levtchenko EN. Details studies of growth hormone secretion in cystinosis patients. Pediatr Nphrol, 2012 (11): 2123-2127.
29. Wuhl E, Haffner D, Offner G, broyer M, van’t Hoff W, Mehls O. long-term treatment with growth hormone in short children with nephropathic cystinosis. J pediatr, 2001 (6): 880-887.
30. Liang H, Labbé A, Mouhaër JL, Plisson C, Baudouin C. A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study. Investigative Ophthalmology & Visual Science. 2017 April (58), 2275-2283.
31. Huynh N, Gahl WA, Bishop RJ. Cysteamine ophthalmic solution 0.44% for the treatment of corneal cystine crystals in cystinosis. Expert Review of Ophthalmology, 2013 8 (4), 341-345.
32. Trauner DA, .Spilkin AM, Williams J, Babchuck L. Specific Cognitive Deficits in Young Children with Cystinosis: Evidence for an Early Effect of the Cystinosin Gene on Neural Function. The Journal of Pediatrics, 2007 Aug, 151 (2); 192-196.
33. Anikster Y, Lacbawan F, Brantly M, Gochuico BL, Avila NA, Travis W, Gahl WA. Pulmonary dysfunction in adults with nephropathic cystinosis. Chest, 2001, 119:394–401.
34. Dogulu CF, Tsilou E, Rubin B, Fitzgibbon EJ, Kaiser-Kupper MI, Rennert OM, Gahl WA. Idiopathic intracranial hypertension in cystinosis. J Pediatr, 2004, 145(5):673–678.
35. 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(3):137–146.
36. Ueda M, O’Brien K, Rosing D, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl W. Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol, 2006, (1): 555–562.
37. Dixit MP, Greifer I. Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. BMC Nephrol, 2002, 3:8.
- Abstract Viewed: 248 times
- PDF Downloaded: 159 times