Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease.

Abstract

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) μmol/l before and was 256.5 ± 150.6 (117-646) μmol/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.

• Authors: Demet Demirkol, Güntülü Şık, Nilüfer Topal, Agop Çıtak, Çigdem Zeybek, Abdülhamit Tüten, Ilmay Bilge
• Journal: Blood purification (Blood Purif) Vol. 42 Issue 1 Pg. 27-32 ( 2016) ISSN: 1421-9735 [Electronic] Switzerland
• PMID: 26998605 (Publication Type: Journal Article)
• Copyright: © 2016 S. Karger AG, Basel.

Topics

• Child
• Child, Preschool
• Hemodiafiltration (adverse effects)
• Humans
• Infant
• Infant, Newborn
• Maple Syrup Urine Disease (complications, therapy)
• Metabolic Diseases (etiology, prevention & control, therapy)
• Renal Replacement Therapy (adverse effects)
• Retrospective Studies
• Treatment Outcome