Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease

Demirkol D., ŞIK S. G. , Topal N., Citak A., AKTUĞLU ZEYBEK A. Ç. , Tuten A., ...Daha Fazla

BLOOD PURIFICATION, cilt.42, sa.1, ss.27-32, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 42 Konu: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1159/000443783
  • Sayfa Sayıları: ss.27-32


Background: The study aims to define the efficacy of continuous renal replacement therapy in acute metabolic decompensation treatment of maple syrup urine disease (MSUD). Methods: All the neonates, infants and children who have had life threatening conditions due to MSUD and were treated with continuous venovenous hemodiafiltration (CVVHDF) were analyzed retrospectively. Results: Fourteen patients underwent 15 sessions of CVVHDF (age range 15 days to 87 months, mean 40.8 +/- 31.4 months). One patient required additional CVVHDF 1 week after cessation of CVVHDF. Twenty seven percent (n = 4) of the patients were intubated and mechanically ventilated. Twelve patients responded to treatment and dramatic neurological improvement was observed within 24 h. Two of the 14 patients required 36 h of CVVHDF for neurological improvement. The mean duration of CVVHDF was 20.2 +/- 8.6 (9-36) h. The mean leucine level was 1,648 +/- 623.8 (714-2,768) mu mol/l before and was 256.5 +/- 150.6 (117-646) mu mol/l at the end of treatment. No mortality was observed. Conclusion: Continuous hemodiafiltration is an effective and safe method in correcting metabolic disturbances in MSUD. (C) 2016 S. Karger AG, Basel