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Doğuştan Metabolik Hastalıkların Tedavisinde Ekstrakorporeal Yöntemler

Yıl 2015, , 509 - 519, 15.09.2015
https://doi.org/10.17827/aktd.48450

Öz

Doğuştan metabolik hastalıklar, metabolik yollarda kesinti sonucu kesintinin ardında biriken maddelere veya son ürünün yapılamamasına bağlı bir grup kalıtsal hastalıktır. Doğuştan metabolik hastalıklar organ hasarı, sekel, hatta ölümle sonuçlanabilecek durumlara yol açabildiğinden tedavide hızlı ve agresif davranmak gereklidir. Bu yazıda medikal tedaviler dışında kan değişimi, periton diyalizi, hemodiyaliz, plazmaferez, ekstrakorporeal membran oksijenasyon gibi ekstrakorporeal tedavi yöntemleri tartışılacaktır.

Kaynakça

  • Kara A. Çukurova Üniversitesi Tıp Fakültesi pediatrik metabolizma hastalıkları ve beslenme polikliniğinde tanı alan veya takibe giren kalıtsal metabolik hastalığı olan hastaların tanılarının, klinik ve laboratuvar bulgularının analizi ile takip sonuçlarının değerlendirilmesi (Uzmanlık tezi). Adana, Çukurova Üniversitesi, 2012.
  • Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102:1-9.
  • Ogier H. Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol. 2002;7:17–26.
  • Wendel U, Langenbeck U, Lombeck I, Bremer HJ. Exchange transfusion in acute episodes of maple syrup urine disease. Eur J Pediatr. 1982;138:293-96.
  • Batshaw ML, Brusilov SW. Treatment of hyperammonemic coma caused by inborn errors of ureasyntesis. J Pediatr. 1980;97:893-900.
  • Gortner L, Leupold D, Pohlandt F, Bartmann P. Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism. Acta Paediatr Scand. 1989;78:706-11.
  • Kasapkara ÇS, Akar M, Yıldırım ZN, Tüzün H, Kanar B, Özbek MN. Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. Ren Fail. 2014;36:451-2.
  • Pela I, Seracini D,Donatti MA, Lavoratti G, Pasquini E, Materassi M. Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatr Nephrol. 2008;23:163-8.
  • Ünal S, Bilgin L, Gündüz M, Uncu N, Azili MN, Tiryaki T. The implementation of neonatal peritoneal dialysis in a clinical setting. J Maternal Fetal Neonatal Med. 2012;25:2111-4.
  • Bilgin L, Ünal S, Gündüz M, Uncu N, Tiryaki T. Utility of peritoneal dialysis in neonates affected by inborn errors of metabolism. J Paediatr Child Health. 2014;50:531–5.
  • Butt WW, Skippen WP, Jouvet P. Renal replacement therapies. In Roger’s Textbook of Pediatric Intensive Care, 4th ed (Ed DG Nichols): 564-84. Philadelphia, Lippincott Williams & Wilkins, 2008.
  • Sadowski RH, Harmon EH, Jabs K. Acute hemodialysis of infants weighing less than five kilograms. Kidney Int. 1994;45:903-6.
  • Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M et al. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol. 2001;16:862- 7.
  • Schaefer F, Straube E, Oh J, Mehls O, Mayapetek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant. 1999;14:910-8.
  • Arbeiter AK, Kranz B, Wingen AM, Bonzel KE, Dohna-Schwake C, Ludwig H et al. Continuous venovenous haemodialysis and continuous peritoneal dialysis in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant. 2010;25:1257-65.
  • Wong KY, Wong SN, Lam SY, Tam S, Tsoi NS. Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol. 1998;12:589-91.
  • Mc Bryde KD, Kudelka TL, Kershaw DB, Brophy PD, Gardner JJ, Smoyer WE. Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency. J Pediatr. 2004;144:536-40.
  • Kaplan AA. Therapeutic plasma exchange: core curriculum. Am J Kidney Dis. 2008;52:1180-96.
  • Singer AL, Olthoff KM, Kim H, Rand E, Zamir G, Shaked A. Role of plasmapheresis in the management of acute hepatic failure in children. Ann Surg. 2001;234:418-24.
  • Seda G, Meyer JM, Amundson DE, Daheshia M. Plasmapheresis in the management of severe hypertriglyceridemia. Critical Care Nurse. 2013;33:18-24.
  • Schwartz J, Winters JL, Padmanabhan A, Balogun RA,Delaney M, Linenberger ML et al. Guidelines on the use of therapeutic apheresis in clinical practice evidence-based approach from the writing committee of the american society for apheresis: the sixth special issue. J Clin Apheresis. 2013;28:145-284.
  • Cingöz F, Tatar H. Çocuklarda ekstrakorporeal membran oksijenatör kullanımı. Turkish J Thorac Cardiovasc Surg. 2008;16:50-7.
  • Summer M, Pietsch J, Deshpande J, Schulman G. Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr. 1996;128:379-82.
  • Mizuguchi K, Hoshino H, Kubota M. Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure. J Inherit Metab Dis. 2009;32:37– S40.
  • Correspondence Address / Yazışma Adresi

Extracorporeal Methods in Treatment of Inborn Errors of Metabolism

Yıl 2015, , 509 - 519, 15.09.2015
https://doi.org/10.17827/aktd.48450

Öz

Inborn errors of metabolism are hereditary disorders that are related to the accumulation of toxic substances or deficiency of proteins because of enzymatic blokage in the metabolic pathways. Treatment should be quick and aggressive as inborn errors of metabolism might lead toorgan damage and even death. This article discusses extracorporeal methods like exchange transfusion, peritoneal dialysis, hemodialysis, plasmapheresis and extracorporeal membran oxygenation for acute management of inborn errors of metabolism apart from medical therapies.

Kaynakça

  • Kara A. Çukurova Üniversitesi Tıp Fakültesi pediatrik metabolizma hastalıkları ve beslenme polikliniğinde tanı alan veya takibe giren kalıtsal metabolik hastalığı olan hastaların tanılarının, klinik ve laboratuvar bulgularının analizi ile takip sonuçlarının değerlendirilmesi (Uzmanlık tezi). Adana, Çukurova Üniversitesi, 2012.
  • Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102:1-9.
  • Ogier H. Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol. 2002;7:17–26.
  • Wendel U, Langenbeck U, Lombeck I, Bremer HJ. Exchange transfusion in acute episodes of maple syrup urine disease. Eur J Pediatr. 1982;138:293-96.
  • Batshaw ML, Brusilov SW. Treatment of hyperammonemic coma caused by inborn errors of ureasyntesis. J Pediatr. 1980;97:893-900.
  • Gortner L, Leupold D, Pohlandt F, Bartmann P. Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism. Acta Paediatr Scand. 1989;78:706-11.
  • Kasapkara ÇS, Akar M, Yıldırım ZN, Tüzün H, Kanar B, Özbek MN. Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. Ren Fail. 2014;36:451-2.
  • Pela I, Seracini D,Donatti MA, Lavoratti G, Pasquini E, Materassi M. Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatr Nephrol. 2008;23:163-8.
  • Ünal S, Bilgin L, Gündüz M, Uncu N, Azili MN, Tiryaki T. The implementation of neonatal peritoneal dialysis in a clinical setting. J Maternal Fetal Neonatal Med. 2012;25:2111-4.
  • Bilgin L, Ünal S, Gündüz M, Uncu N, Tiryaki T. Utility of peritoneal dialysis in neonates affected by inborn errors of metabolism. J Paediatr Child Health. 2014;50:531–5.
  • Butt WW, Skippen WP, Jouvet P. Renal replacement therapies. In Roger’s Textbook of Pediatric Intensive Care, 4th ed (Ed DG Nichols): 564-84. Philadelphia, Lippincott Williams & Wilkins, 2008.
  • Sadowski RH, Harmon EH, Jabs K. Acute hemodialysis of infants weighing less than five kilograms. Kidney Int. 1994;45:903-6.
  • Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M et al. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol. 2001;16:862- 7.
  • Schaefer F, Straube E, Oh J, Mehls O, Mayapetek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant. 1999;14:910-8.
  • Arbeiter AK, Kranz B, Wingen AM, Bonzel KE, Dohna-Schwake C, Ludwig H et al. Continuous venovenous haemodialysis and continuous peritoneal dialysis in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant. 2010;25:1257-65.
  • Wong KY, Wong SN, Lam SY, Tam S, Tsoi NS. Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol. 1998;12:589-91.
  • Mc Bryde KD, Kudelka TL, Kershaw DB, Brophy PD, Gardner JJ, Smoyer WE. Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency. J Pediatr. 2004;144:536-40.
  • Kaplan AA. Therapeutic plasma exchange: core curriculum. Am J Kidney Dis. 2008;52:1180-96.
  • Singer AL, Olthoff KM, Kim H, Rand E, Zamir G, Shaked A. Role of plasmapheresis in the management of acute hepatic failure in children. Ann Surg. 2001;234:418-24.
  • Seda G, Meyer JM, Amundson DE, Daheshia M. Plasmapheresis in the management of severe hypertriglyceridemia. Critical Care Nurse. 2013;33:18-24.
  • Schwartz J, Winters JL, Padmanabhan A, Balogun RA,Delaney M, Linenberger ML et al. Guidelines on the use of therapeutic apheresis in clinical practice evidence-based approach from the writing committee of the american society for apheresis: the sixth special issue. J Clin Apheresis. 2013;28:145-284.
  • Cingöz F, Tatar H. Çocuklarda ekstrakorporeal membran oksijenatör kullanımı. Turkish J Thorac Cardiovasc Surg. 2008;16:50-7.
  • Summer M, Pietsch J, Deshpande J, Schulman G. Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr. 1996;128:379-82.
  • Mizuguchi K, Hoshino H, Kubota M. Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure. J Inherit Metab Dis. 2009;32:37– S40.
  • Correspondence Address / Yazışma Adresi
Toplam 25 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Derleme
Yazarlar

İlknur Tolunay Bu kişi benim

Rıza Yıldızdaş Bu kişi benim

Özden Horoz Bu kişi benim

Ercüment Petmezci Bu kişi benim

Faruk Ekinci Bu kişi benim

Neslihan Mungan Bu kişi benim

Yayımlanma Tarihi 15 Eylül 2015
Yayımlandığı Sayı Yıl 2015

Kaynak Göster

AMA Tolunay İ, Yıldızdaş R, Horoz Ö, Petmezci E, Ekinci F, Mungan N. Extracorporeal Methods in Treatment of Inborn Errors of Metabolism. aktd. Eylül 2015;24(4):509-519. doi:10.17827/aktd.48450