Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
| Autor: | Karine Mention, Anaïs Brassier, Aline Cano, Brigitte Chabrol, Pascale de Lonlay, Alain Fouilhoux, Marie-Caroline Husson, Jean-Baptiste Arnoux, François Feillet, Manuel Schiff, Dries Dobbelaere, Nathalie Guffon, Caroline Elie |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Sodium Ornithine transcarbamylase chemistry.chemical_element 030105 genetics & heredity Pharmacology Loading dose Gastroenterology Urea cycle disorders 03 medical and health sciences chemistry.chemical_compound Clinical trials 0302 clinical medicine Internal medicine Intensive care medicine Hyperammonemia Genetics(clinical) Pharmacology (medical) Decompensation Sodium benzoate Genetics (clinical) Medicine(all) business.industry Maintenance dose Research General Medicine medicine.disease chemistry Systematic review business 030217 neurology & neurosurgery |
| Zdroj: | Orphanet Journal of Rare Diseases |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-016-0513-0 |
| Popis: | Background The efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes of hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear picture of the benefits and risks of this drug. We report a retrospective multicentre study on the use of i.v. sodium benzoate in patients treated for UCD between 2000 and 2010 in the 6 French reference centres for metabolic diseases. Results Sixty-one patients with UCDs - 22 ornithine transcarbamylase (20 confirmed, 2 suspected), 18 arginino-succinate synthetase, 15 carbamoyl phosphate synthetase, 3 arginosuccinate lyase, 1 arginase deficiency, 1 N-acetylglutamate synthetase, 1 HHH syndrome - required i.v. sodium benzoate over the course of 95 acute episodes (NH3 > 100 μmol/L or high-risk situations, i.e., gastroenteritis, surgery). Forty out of 61 patients experienced only one episode of decompensation (neonatal coma, 68.6 %). The most frequent cause of late decompensation was infection (55.5 %). A loading dose of i.v. sodium benzoate (median 250 mg/kg over 2 h) was administered for 41/95 acute episodes. The median maintenance dose was 246.1 mg/kg/day, administered via peripheral venous infusion in all cases except one via a central line. The total median duration of i.v. sodium benzoate treatment per episode was 2 days (0–13 days). The median durations of hospitalization in intensive care and metabolic units were 4 days (0–17 days) and 10 days (0–70 days), respectively. Eight patients died during the neonatal coma (n = 6) or surgery (n = 2). The median plasma ammonium level before treatment was 245.5 μmol/L (20.0–2274.0 μmol/L); it decreased to 40.0 μmol/L in patients who were alive (13.0–181.0 μmol/L) at the end of treatment with i.v. sodium benzoate. A decrease in ammonium level to ≤ 100 μmol/L was obtained in 92.8 % of episodes (64/69 of the episodes recorded for the 53 surviving patients). Five patients required another treatment for hyperammonemia (sodium phenylacetate + sodium benzoate, haemofiltration). Eighteen side effects were reported related to the i.v. infusion (local diffusion, oedema). Conclusion This 10-year retrospective study shows that i.v. sodium benzoate associated with an emergency regimen is an effective and safe treatment for acute episodes of UCD. |
| Databáze: | OpenAIRE |
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