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Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

BACKGROUND: The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requ...

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Autores principales: Teixeira, Catarina, Cordeiro, Catarina, Pinto, Carla, Diogo, Luísa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578465/
https://www.ncbi.nlm.nih.gov/pubmed/37843971
http://dx.doi.org/10.34763/jmotherandchild.20232701.d-23-00021
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author Teixeira, Catarina
Cordeiro, Catarina
Pinto, Carla
Diogo, Luísa
author_facet Teixeira, Catarina
Cordeiro, Catarina
Pinto, Carla
Diogo, Luísa
author_sort Teixeira, Catarina
collection PubMed
description BACKGROUND: The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases. MATERIAL AND METHODS: An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022. Three ‘pathophysiological’ groups were defined: cases due to small molecules, energy deficiency and complex molecules. RESULTS: Twenty newborns, with a median age at admission of 7.5 days, were included. Thirteen (65%) were female, sixteen (80%) had a small molecule disorder, and four (20%) had diseases of energy defects. Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. There was no difference between the groups in neurological, cardiac, and hepatic involvement and shock at presentation. A symptom-free interval was more frequent in patients with small molecule disorders than the others (p=0.01). The main metabolic changes found were altered plasma amino acids (n=13) and organic aciduria (n=10), creatine kinase elevation (n=13), hyperlactatemia (n=12), metabolic acidosis with increased anion gap (n=8) and hyperammonaemia (n=7). Newborn screening of metabolites helped make a diagnosis in 60% of cases. Five newborns died due to multiorgan failure (n=3) or refractory cardiogenic shock (n=1), and in one, therapeutic efforts were limited due to an adverse neurological prognosis. CONCLUSION: Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. Newborns with suspected inherited metabolic disease should be evaluated with simple biochemical tests, and newborn screening should be urgently expanded to start specific treatment earlier, reducing mortality and morbidity.
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spelling pubmed-105784652023-10-17 Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit Teixeira, Catarina Cordeiro, Catarina Pinto, Carla Diogo, Luísa J Mother Child Original Article BACKGROUND: The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases. MATERIAL AND METHODS: An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022. Three ‘pathophysiological’ groups were defined: cases due to small molecules, energy deficiency and complex molecules. RESULTS: Twenty newborns, with a median age at admission of 7.5 days, were included. Thirteen (65%) were female, sixteen (80%) had a small molecule disorder, and four (20%) had diseases of energy defects. Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. There was no difference between the groups in neurological, cardiac, and hepatic involvement and shock at presentation. A symptom-free interval was more frequent in patients with small molecule disorders than the others (p=0.01). The main metabolic changes found were altered plasma amino acids (n=13) and organic aciduria (n=10), creatine kinase elevation (n=13), hyperlactatemia (n=12), metabolic acidosis with increased anion gap (n=8) and hyperammonaemia (n=7). Newborn screening of metabolites helped make a diagnosis in 60% of cases. Five newborns died due to multiorgan failure (n=3) or refractory cardiogenic shock (n=1), and in one, therapeutic efforts were limited due to an adverse neurological prognosis. CONCLUSION: Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. Newborns with suspected inherited metabolic disease should be evaluated with simple biochemical tests, and newborn screening should be urgently expanded to start specific treatment earlier, reducing mortality and morbidity. Sciendo 2023-10-16 /pmc/articles/PMC10578465/ /pubmed/37843971 http://dx.doi.org/10.34763/jmotherandchild.20232701.d-23-00021 Text en © 2023 Catarina Teixeira et al., published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License.
spellingShingle Original Article
Teixeira, Catarina
Cordeiro, Catarina
Pinto, Carla
Diogo, Luísa
Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
title Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
title_full Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
title_fullStr Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
title_full_unstemmed Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
title_short Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
title_sort clinical presentation of inherited metabolic diseases in newborns hospitalised in an intensive care unit
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578465/
https://www.ncbi.nlm.nih.gov/pubmed/37843971
http://dx.doi.org/10.34763/jmotherandchild.20232701.d-23-00021
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