Peritoneal dialysis in three patients with maple syrup ürine disease

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

Rania Gönül Sezer Abdülkadir Bozaykut Lale Pulat Seren İlke Özahi İpek

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.

Keywords

Peritoneal Dialysis, Maple Syrup Urine Disease, Fatal Outcome, Infant, Newborn, Diseases, Infant, Newborn

Periton diyalizi ile tedavi edilen üç akçaağaç şurubu idrarı hastası

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.

Keywords

Periton diyalizi, Akça ağaç şurubu hastalığı, Ölümle sonuçlanma, Süt çocuğu, yenidoğan, hastalıklar, Süt çocuğu, yenidoğan

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