ArticleFrontiers in pediatrics2021
Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?
Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 6 citations in OpenAlex.
- Factors associated with the admission of moderate to late preterm and term neonates within 72 hours of birth at Dedza and Mangochi District Hospitals, Malawi: a matched case-control study.BMC pediatrics · 2024Article
- Genetic background and clinical characteristics of infantile hyperammonemia.Translational pediatrics · 2023Article
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23 authors at 9 institutions in 1 country.
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Abstract
Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients in neonatal intensive care units (NICUs). Complex etiologies and atypical clinical signs make diagnosis difficult; thus, it is crucial to investigate the underlying causes of NMA rapidly and provide disorder-specific therapies. Our study aims to provide an overview of the genetic causes of NMA in patients from NICUs. We performed next-generation sequencing (NGS) on neonates with NMA from January 2016 to December 2019. Clinical features, genetic diagnoses, and their effects on clinical interventions were collected for analysis. In the 354 enrolled patients, 131 (37%) received genetic diagnoses; 95 (72.5%) of them were autosomal recessively inherited diseases. Two hundred and fifteen variants spanning 57 genes were classified as pathogenic (P) or likely pathogenic (LP) in 131 patients. The leading cause was metabolic disorders due to 35 genes found in 89 patients (68%). The other 42 NMA patients (32%) with 22 genes had malformations and renal, neuromuscular, and immune-hematological disorders. Seven genes (
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