Abstract
Amaç: Nefropatik sistinozis, sistinozisin en ağır formudur ve genellikle geç çocukluk çağında son dönem böbrek hastalığı ile sonuçlanır. Çalışmada nefropatik sistinozis tanısı ile izlenen hastaların klinik ve laboratuvar özellikleri, tanı ve tedavide karşılaşılan güçlükler ve prognozunun değerlendirilmesi amaçlandı.Gereç ve Yöntemler: Kliniğimizde 1996-2012 yılları arasında nefropatik sistinozis tanısı ile izlenmiş olan 15 hastanın dosyaları geriye dönük olarak incelendi.Bulgular: Hastaların yaş ortalaması 31.8 ± 35.9 ay (6-144 ay)’dı. 11 (% 73.3) hastada akraba evliliği saptandı. Poliüri polidipsi ve gelişme geriliği, en sık görülen bulgulardı. Başvuruda ortalama glomerüler filtrasyon hızı (GFH ) 47.6 ± 29.9 ml / dak / 1.73 m2 (6.30-100) idi. Korneal sistin kristalleri hastaların 12(% 80)’sinde vardı. Üç hastada lökosit içi sistin düzeyine bakıldı ve üçünde de yüksek saptandı. Takip sırasında 10 hastada kronik böbrek hastalığı (KBH) gelişti ve bunların da üçünde son dönem böbrek hastalığı (SDBH) gelişti. İki hasta ise takipten çıktı.Sonuç: Nefropatik sistinozis tanı ve tedavisinde ülkemizde halen teknik, sosyal ve finansal problemler mevcuttur. Bu nedenle özellikle de hastalığın ortaya çıkışını azaltabilmek amacıyla akraba evliliklerinin önlenmesine yönelik çaba sarfetmek gerekmektedir.
References
- Wilmer JM M, Schoeber JP, van den Heuvel LP, Levtchenko E. Cystinosis: Practical tools for diagnosis and treatment. Ped Nephrol 2011;26:205-15.
- Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med 2002;347:111-21.
- Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993;328:1157-62.
- Emma F, Nesterova G, Langman C, Labbe A, Cherqui S, Goodyer P. Nephropathic cystinosis: An international consensus document. Nephrol Dial Transplant 2014;29:87-94.
- 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.
- Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA. Recent advances in the treatment of cystinosis. J Inherit Metab Dis 1995;18:387-97.
- Hogg RJ, Furth S, Lemley KV, Portman R, Schwartz GJ, Coresh J, et al. National Kidney Foundation‘s Kidney Disease Outcomes Quality Initiative clinical practice guidelines in children and adolescents: evaluation, classification and stratification. Pediatrics 2003;111:1416-21.
- Nesterova G, Gahl W. Nephropathic cystinosis: Late complications of a multisystemic disease. Pediatr Nephrol 2008;23:863-78.
- 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;25:2459-67.
- Aile Yapısı Araştırma T.C. Başbakanlık Aile ve Sosyal Araştırmalar Genel Müdürlüğü ve T.C.Başbakanlık Türkiye İstatistik Kurumu 2006; sayfa 8. Erişim tarihi: 21 Ocak 2008. Available from: http// www.aile.gov.tr/images/arastırmalar/Aile yapısı.pdf.
- Topaloglu R, Baskın E, Bahat E, Kavukcu S, Cakar N, Donmez O et al. Hereditary renal tubular disorders in Turkey: Demographic, clinical and laboratory features. Clin Exp Nephrol 2011;15:108-13.
- Topaloglu R, Vilboux T, Coskun T, Ozaltın F, Tinloy B, Gunay-Aygun M, et al. Genetic basis of cystinosis in Turkish patients: A single- center experience. Pediatr Nephrol 2012;27:115-21.
- Manz F, Gretz N. Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis. Pediatr Nephrol 1994;8:466-71.
- 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;6:2485-91.
- 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
Difficulties in the Diagnosis and Management of Nephropathic Cystinosis Nefropatik Sistinozis Olgularında Tanı ve Tedavide Karşılaşılan
Abstract
Objective: Nephropathic cystinosis is the most severe form of cystinosis and usually leads to end stage renal disease in late childhood. We aimed to investigate the clinical and laboratory findings, therapeutic and diagnostic difficulties and prognosis of patients with nephropathic cystinosis.Material and Methods: The medical records of fifteen patients who were diagnosed as cystinosis between 1996 and 2012 were retrospectively evaluated. Results: The mean age of the patients was 31.8±35.9 months (6-144 months). 11 (73.3 %) had parental consanguinity. Polyuria, polydipsia and failure to thrive were the most common features. Mean glomerular filtration rate (GFR) was 47.6±29.9 ml/min/1.73 m2 at admission. Corneal cystine crystals were detected in 12 (80 %) of the patients. We measured leukocyte cysteine levels in only three patients and found it above normal limits. During follow up, 10 patients developed chronic kidney disease (CKD) and three of them reached end-stage renal disease (ESRD). Two of the patients were lost to follow up.Conclusion: There are still many technical and financial problems in the diagnosis and management of cystinosis in our country. Efforts should therefore be directed towards the avoidance of consanguineous marriages to decrease the incidence of the disease
Keywords
References
- Wilmer JM M, Schoeber JP, van den Heuvel LP, Levtchenko E. Cystinosis: Practical tools for diagnosis and treatment. Ped Nephrol 2011;26:205-15.
- Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med 2002;347:111-21.
- Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993;328:1157-62.
- Emma F, Nesterova G, Langman C, Labbe A, Cherqui S, Goodyer P. Nephropathic cystinosis: An international consensus document. Nephrol Dial Transplant 2014;29:87-94.
- 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.
- Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA. Recent advances in the treatment of cystinosis. J Inherit Metab Dis 1995;18:387-97.
- Hogg RJ, Furth S, Lemley KV, Portman R, Schwartz GJ, Coresh J, et al. National Kidney Foundation‘s Kidney Disease Outcomes Quality Initiative clinical practice guidelines in children and adolescents: evaluation, classification and stratification. Pediatrics 2003;111:1416-21.
- Nesterova G, Gahl W. Nephropathic cystinosis: Late complications of a multisystemic disease. Pediatr Nephrol 2008;23:863-78.
- 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;25:2459-67.
- Aile Yapısı Araştırma T.C. Başbakanlık Aile ve Sosyal Araştırmalar Genel Müdürlüğü ve T.C.Başbakanlık Türkiye İstatistik Kurumu 2006; sayfa 8. Erişim tarihi: 21 Ocak 2008. Available from: http// www.aile.gov.tr/images/arastırmalar/Aile yapısı.pdf.
- Topaloglu R, Baskın E, Bahat E, Kavukcu S, Cakar N, Donmez O et al. Hereditary renal tubular disorders in Turkey: Demographic, clinical and laboratory features. Clin Exp Nephrol 2011;15:108-13.
- Topaloglu R, Vilboux T, Coskun T, Ozaltın F, Tinloy B, Gunay-Aygun M, et al. Genetic basis of cystinosis in Turkish patients: A single- center experience. Pediatr Nephrol 2012;27:115-21.
- Manz F, Gretz N. Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis. Pediatr Nephrol 1994;8:466-71.
- 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;6:2485-91.
- 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
Details
| Other ID | JA65BK83FV |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | December 1, 2016 |
| Submission Date | December 1, 2016 |
| Published in Issue | Year 2016 Volume: 10 Issue: 4 |
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