Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience

Hasan Akduman,Emel Okulu,Gaffari̇ Tunç,Oktay Perk,Begüm Atasay,Fatma Tuba Emi̇noğlu,Saadet Arsan,Tanil Kendi̇rli̇,Ebru Azapağasi,Ömer Eredere

doi:10.3906/sag-1811-8

Abstract

Background/aim Most inborn metabolic diseases are diagnosed during the neonatal period. The accumulation of toxic metabolites may cause acute metabolic crisis with long-term neurological dysfunction and death. Renal replacement therapy (RRT) modalities allow the efficient removal of toxic metabolites. In this study, we reviewed our experience with continuous venovenous hemodiafiltration (CVVHDF) as RRT for newborns with an inborn metabolic disease.Materials and methods Patients diagnosed with an inborn metabolic disease and who received CVVHDF treatment at our neonatal intensive care unit between January 2014 and December 2017 were included in this study. Their demographic and clinical data were collected, and the efficacy and safety of CVVHDF was evaluated.ResultsA total of nine continuous RRT (CRRT) sessions as CVVHDF were performed in eight newborns with a diagnosis of urea cycle defect (n = 5), maple syrup urine disease (n = 2), or methylmalonic acidemia (n = 1). The mean age at admission was 10 ± 8.6 days (range: 3–28 days). The mean plasma levels of ammonium were 1120 ± 512.6 mg/dL and 227.5 ± 141.6 mg/dL before and at the end of the treatment, respectively. Plasma levels of leucine were 2053.5 ± 1282 µmol/L and 473.5 ± 7.8 µmol/L before and at the end of the treatment, respectively. The CVVHDF duration was 32.3 ± 11.1 h (median: 37 h; range: 16–44 h), and the mean length of hospitalization was 14.6 ± 12.9 days. The mean duration of CVVHDF was 32.3 ± 11.1 h (range: 16–44 h). Circuit clotting was the most common observed complication (37.5%) and the survival rate was 50%. Among surviving patients, two developed severe and two developed mild mental and motor retardation. Conclusion CVVHDF is a CRRT modality that can be used to treat newborns with an inborn metabolic disease. Early diagnosis, commencement of specific medical therapy, diet, and extracorporeal support, if needed, are likely to result in improved short and long-term outcomes.

Highlights

Newborns with an inborn metabolic disease often present with coma and require urgent diagnosis, nutritional support with specific medical therapy, and toxin removal [1]
We reviewed our experience with continuous venovenous hemodiafiltration (CVVHDF) as Renal replacement therapy (RRT) for newborns with an inborn metabolic disease
A total of nine continuous RRT (CRRT) sessions as CVVHDF were performed in eight newborns with a diagnosis of urea cycle defect (n = 5), maple syrup urine disease (n = 2), or methylmalonic acidemia (n = 1)

Summary

Introduction

Newborns with an inborn metabolic disease often present with coma and require urgent diagnosis, nutritional support with specific medical therapy, and toxin removal [1]. Most inborn metabolic diseases are diagnosed during the neonatal period. Renal replacement therapy (RRT) modalities allow for efficient removal of toxic metabolites, and minimize the duration of exposure to these metabolites while diagnostic studies are being performed [5,6,7,8]. Infants in metabolic crisis requiring extracorporeal therapy are managed with various modalities favorable for the rapid clearance of toxins. The currently available RRT modalities consist of peritoneal dialysis (PD), intermittent hemodialysis (HD), and forms of continuous extracorporeal removal including continuous venovenous hemofiltration (CVVH), continuous venovenous hemodialysis (CVVHD), and continuous venovenous hemodiafiltration (CVVHDF) [9,10].

Methods

Results

Conclusion