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Acute hemodialysis therapy in neonates with inborn errors of metabolism

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Abstract

Background

Inborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, are characterized by systemic accumulation of toxic metabolites with deleterious effect on the developing brain. While hemodialysis (HD) is most efficient in clearing IEM-induced metabolic toxins, data regarding its use during the neonatal period is scarce.

Methods

We retrospectively summarize our experience with HD in 20 neonates with IEM-induced metabolic intoxication (seven with maple syrup urine disease, 13 with primary hyperammonia), over a 16-year period, between 2004 and 2020. All patients presented with IEM-induced neurologic deterioration at 48 h to 14 days post-delivery, and were managed with HD in a pediatric intensive care setting. HD was performed through an internal jugular acute double-lumen catheter (6.5–7.0 French), using an AK-200S (Gambro, Sweden) dialysis machine and tubing, with F3 or FXpaed (Fresenius, Germany) dialyzers.

Results

Median (interquartile range) age and weight at presentation were 5 (3–8) days and 2830 (2725–3115) g, respectively. Two consecutive HD sessions decreased the mean leucine levels from 2281 ± 631 to 179 ± 91 μmol/L (92.1% reduction) in MSUD patients, and the mean ammonia levels from 955 ± 444 to 129 ± 55 μmol/L (86.5% reduction), in patients with hyperammonemia. HD was uneventful in all patients, and led to marked clinical improvement in 17 patients (85%). Three patients (15%) died during the neonatal period, and four died during long-term follow-up.

Conclusions

Taken together, our results indicate that HD is safe, effective, and life-saving for most neonates with severe IEM-induced metabolic intoxication, when promptly performed by an experienced and multidisciplinary team.

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Authors and Affiliations

  1. Pediatric Nephrology Institute, Ruth Children’s Hospital, Rambam Health Care Campus, 3109601, Haifa, Israel

    Israel Eisenstein, Shirley Pollack, Israel Zelikovic & Daniella Magen

  2. Technion Faculty of Medicine, Ruth Children’s Hospital, Rambam Health Care Campus, Haifa, Israel

    Shirley Pollack, Amir Hadash, Danny Eytan, Michael Halberthal, Josef Ben-Ari, Gad Bar-Joseph, Israel Zelikovic, Hanna Mandel, Galit Tal & Daniella Magen

  3. Pediatric Intensive Care Unit, Ruth Children’s Hospital, Rambam Health Care Campus, Haifa, Israel

    Amir Hadash, Danny Eytan, Ori Attias, Michael Halberthal, Josef Ben-Ari & Gad Bar-Joseph

  4. Pediatric Metabolic Diseases Unit, Ruth Children’s Hospital, Rambam Health Care Campus, Haifa, Israel

    Hanna Mandel & Galit Tal

Authors
  1. Israel Eisenstein
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  2. Shirley Pollack
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Correspondence to Daniella Magen.

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Eisenstein, I., Pollack, S., Hadash, A. et al. Acute hemodialysis therapy in neonates with inborn errors of metabolism. Pediatr Nephrol 37, 2725–2732 (2022). https://doi.org/10.1007/s00467-022-05507-3

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  • DOI: https://doi.org/10.1007/s00467-022-05507-3

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