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Peritoneal dialysis in three patients with maple syrup ürine disease

Year 2006, Volume: 37 Issue: 1, 21 - 23, 01.02.2006

Abstract

Maple syrup urine disease is an inborn error of metabolism due to deficiency of branched- chain alpha-ketoacid dehydrogenase enzyme complex. This report describes two girls and a boy, who presented with poor feeding, irritability and diagnosed as maple syrup urine disease. They were managed by peritoneal dialysis, One of the infants died at 15th day of her life due to cardiopulmonary insufficiency, the other one died due to Staphylococcus aureus sepsis at 22th day of his life and the last one is 7-months old with motor retardation. Treatment modalities for maple syrup urine disease are reported in this presentation.

References

  • Rezvani I, Rosenblatt DS. Valine, leucine, isoleucine and related organic acidemias. In: Behrman RE, Kliegman RB, Jenson HB,eds. Nelson Textbook of Pediatrics. Pennsylvania: Saunders,2003:409-411
  • Deng C, Deng Y Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B 2003; 792:261-268
  • Schadewaldt P, Wendel U. Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 1997;156:62-66
  • Jouvet P, Myriam J, DanielR etal. Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med 2001;27:1798-1806
  • McMahon Y, MacDonnell RC Jr. Clearance of branched-chain amino acids by peritoneal dialysis in maple syrup urine disease. Adv Perit Dial 1990;6:31-4
  • Gortner L, Leupold D, Pohlandt F, Bartmann P. Peritoneal dialysis in the treatment of metabolic crisis caused by inherited disorders of organic and amino acid metabolism. Ada Paediatr Scand 1998;7 8:7 06-11
  • Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJG. Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol 2002;17: 239-242
  • Schaefer F, Straube E, OhJ, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant 1999;14:910-918
  • Saudubray JM, Ogier H, Charpentier C et al. Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J Inherit Metab Dis 1984; 7 Suppl 1:2-9
  • Baulny HO, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol 2002;7:65-74.

Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası

Year 2006, Volume: 37 Issue: 1, 21 - 23, 01.02.2006

Abstract

Akçaağaç şurubu idrarı hastalığı dallı zincirli ketoasit dehidrogenaz enzim kompleksinin eksikliğine bağlı gelişen doğumsal bir metabolik hastalıktır. Bu yazıda emmeme, huzursuzluk şikayetleriyle getirilip, akçaağaç şurubu idrarı hastalığı tanısı konularak periton diyalizi tedavisi uygulanan iki kız, bir erkek bebek sunuldu. Hastalardan birincisi 15 günlükken kardiopulmoner yetersizliğe bağlı, ikincisi 22 günlükken Staphylococcus aureus sepsisine bağlı kaybedildi, üçüncü hastamız son kontrolünde 7 aylık olup halen izlemimizdedir ve motor retardasyon bulguları mevcuttur. Bu yazıda, akçaağaç şurubu idrarı hastalığı tedavi seçenekleri literatür eşliğinde sunuldu.

References

  • Rezvani I, Rosenblatt DS. Valine, leucine, isoleucine and related organic acidemias. In: Behrman RE, Kliegman RB, Jenson HB,eds. Nelson Textbook of Pediatrics. Pennsylvania: Saunders,2003:409-411
  • Deng C, Deng Y Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B 2003; 792:261-268
  • Schadewaldt P, Wendel U. Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 1997;156:62-66
  • Jouvet P, Myriam J, DanielR etal. Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med 2001;27:1798-1806
  • McMahon Y, MacDonnell RC Jr. Clearance of branched-chain amino acids by peritoneal dialysis in maple syrup urine disease. Adv Perit Dial 1990;6:31-4
  • Gortner L, Leupold D, Pohlandt F, Bartmann P. Peritoneal dialysis in the treatment of metabolic crisis caused by inherited disorders of organic and amino acid metabolism. Ada Paediatr Scand 1998;7 8:7 06-11
  • Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJG. Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol 2002;17: 239-242
  • Schaefer F, Straube E, OhJ, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant 1999;14:910-918
  • Saudubray JM, Ogier H, Charpentier C et al. Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J Inherit Metab Dis 1984; 7 Suppl 1:2-9
  • Baulny HO, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol 2002;7:65-74.
There are 10 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Rania Gönül Sezer This is me

Abdülkadir Bozaykut This is me

Lale Pulat Seren This is me

İlke Özahi İpek This is me

Publication Date February 1, 2006
Published in Issue Year 2006 Volume: 37 Issue: 1

Cite

APA Sezer, R. G., Bozaykut, A., Seren, L. P., İpek, İ. Ö. (2006). Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası. Zeynep Kamil Tıp Bülteni, 37(1), 21-23. https://doi.org/10.16948/zktb.13650
AMA Sezer RG, Bozaykut A, Seren LP, İpek İÖ. Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası. Zeynep Kamil Tıp Bülteni. February 2006;37(1):21-23. doi:10.16948/zktb.13650
Chicago Sezer, Rania Gönül, Abdülkadir Bozaykut, Lale Pulat Seren, and İlke Özahi İpek. “Periton Diyalizi Ile Tedavi Edilen üç akçaağaç şurubu Idrarı Hastası”. Zeynep Kamil Tıp Bülteni 37, no. 1 (February 2006): 21-23. https://doi.org/10.16948/zktb.13650.
EndNote Sezer RG, Bozaykut A, Seren LP, İpek İÖ (February 1, 2006) Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası. Zeynep Kamil Tıp Bülteni 37 1 21–23.
IEEE R. G. Sezer, A. Bozaykut, L. P. Seren, and İ. Ö. İpek, “Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası”, Zeynep Kamil Tıp Bülteni, vol. 37, no. 1, pp. 21–23, 2006, doi: 10.16948/zktb.13650.
ISNAD Sezer, Rania Gönül et al. “Periton Diyalizi Ile Tedavi Edilen üç akçaağaç şurubu Idrarı Hastası”. Zeynep Kamil Tıp Bülteni 37/1 (February 2006), 21-23. https://doi.org/10.16948/zktb.13650.
JAMA Sezer RG, Bozaykut A, Seren LP, İpek İÖ. Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası. Zeynep Kamil Tıp Bülteni. 2006;37:21–23.
MLA Sezer, Rania Gönül et al. “Periton Diyalizi Ile Tedavi Edilen üç akçaağaç şurubu Idrarı Hastası”. Zeynep Kamil Tıp Bülteni, vol. 37, no. 1, 2006, pp. 21-23, doi:10.16948/zktb.13650.
Vancouver Sezer RG, Bozaykut A, Seren LP, İpek İÖ. Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası. Zeynep Kamil Tıp Bülteni. 2006;37(1):21-3.