L Abily-Donval1, L Dupic2, C Joffre2, A Brassier3, J B Arnoux3, M Grimaud2, F Lesage2, L de Saint Blanquat2, S Bekri4, S Marret5, C Pontoizeau6, S Renolleau2, C Ottolenghi6, P de Lonlay3, M Oualha2. 1. Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, 76031 Rouen, France; INSERM U1245, Laboratory of Microvascular Endothelium and Neonatal Brain Lesions, Institute of Research for Innovation in Biomedicine, Normandy University, 76031 Rouen, France. Electronic address: lenaig.donval@gmail.com. 2. Pediatric Intensive Care Unit, Necker Enfants Malades University Hospital, AP-HP, 75015 Paris, France. 3. Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, University Paris Descartes, AP-HP, 75015 Paris, France. 4. INSERM U1245, Laboratory of Microvascular Endothelium and Neonatal Brain Lesions, Institute of Research for Innovation in Biomedicine, Normandy University, 76031 Rouen, France; Metabolic biochemistry Department, Rouen University Hospital, 76031 Rouen, France. 5. Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, 76031 Rouen, France; INSERM U1245, Laboratory of Microvascular Endothelium and Neonatal Brain Lesions, Institute of Research for Innovation in Biomedicine, Normandy University, 76031 Rouen, France. 6. Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, University Paris Descartes, AP-HP, 75015 Paris, France; Specialized biochemistry, Necker Enfants Malades Hospital, University Paris Descartes, AP-HP, 75015 Paris, France.
Abstract
Neurological involvement is frequent in inherited metabolic disease of the intoxication type. Hyperammonemic coma related to these diseases may cause severe neurological sequelae. Early optimal treatment is mandatory combining metabolite scavengers (MS) and sometimes continuous veno-venous hemodialysis (CVVHD). We aimed to describe the therapeutic management of hyperammonemia in neonates upon diagnosis of their metabolic disease and to compare neonates managed with MS alone or with both MS and CVVHD. We conducted a retrospective study including all neonates admitted for initial hyperammonemia to the pediatric intensive care unit of a Reference Center of Inherited Metabolic Diseases, between 2001 and 2012. The study included 35 neonates. Before admission, MS were initiated for 11 neonates. At admission, the median ammonia levels were 391 μmol/L and were significantly lower in neonates who received MS before admission. At admission, ammonia levels were 644 μmol/L in dialyzed and 283 μmol/L in non-dialyzed neonates. The median time to reach a 50% decrease of the initial ammonia levels was significantly shorter in dialyzed neonates; however, the normalization of ammonia levels was similar between dialyzed and non-dialyzed neonates. Hemodynamic disorders were more frequent in dialyzed neonates. CONCLUSION: MS represent an effective treatment for hyperammonemia and should be available in all pediatric units to avoid the need for CVVHD. Although CVVHD enhances the kinetics of toxic metabolite decrease, it is associated with adverse hemodynamic effects.
Neurological involvement is frequent in inherited metabolic disease of the intoxication type. Hyperammonemic coma related to these diseases may cause severe neurological sequelae. Early optimal treatment is mandatory combining metabolite scavengers (MS) and sometimes continuous veno-venous hemodialysis (CVVHD). We aimed to describe the therapeutic management of hyperammonemia in neonates upon diagnosis of their metabolic disease and to compare neonates managed with MS alone or with both MS and CVVHD. We conducted a retrospective study including all neonates admitted for initial hyperammonemia to the pediatric intensive care unit of a Reference Center of Inherited Metabolic Diseases, between 2001 and 2012. The study included 35 neonates. Before admission, MS were initiated for 11 neonates. At admission, the median ammonia levels were 391 μmol/L and were significantly lower in neonates who received MS before admission. At admission, ammonia levels were 644 μmol/L in dialyzed and 283 μmol/L in non-dialyzed neonates. The median time to reach a 50% decrease of the initial ammonia levels was significantly shorter in dialyzed neonates; however, the normalization of ammonia levels was similar between dialyzed and non-dialyzed neonates. Hemodynamic disorders were more frequent in dialyzed neonates. CONCLUSION: MS represent an effective treatment for hyperammonemia and should be available in all pediatric units to avoid the need for CVVHD. Although CVVHD enhances the kinetics of toxic metabolite decrease, it is associated with adverse hemodynamic effects.