Abstract
Article XVth International Congress on Pediatric Laboratory Medicine, Munich, Nov 27–28, 2021; Poster Presentation Abstracts was published on December 1, 2021 in the journal Journal of Laboratory Medicine (volume 45, issue 6).
Highlights
AIM Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic autoinflammatory disease caused by loss of function homozygous or heterozygous mutations in ADA 2 gene
Since Multisystem Inflammatory Syndrome in Children (MIS-C) symptoms are not specific, the interest of this case lies in the importance of laboratory results for its diagnosis and in the fact that biochemical findings correlate with clinical manifestations of the syndrome
CONCLUSIONS the LC-mass spectrometry system (MS/MS) acquisition time was longer, the application proved to be superior to the gas chromatography-mass spectrometry (GC-MS) analysis with regard to diagnostic accuracy and the option to automate with a reduced sample volume
Summary
AIM Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic autoinflammatory disease caused by loss of function homozygous or heterozygous mutations in ADA 2 gene AIM Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome provoked by excessive immune activation It most frequently affects infants, but the disease is observed in all ages. This study is to determine the involvement of Glucose-6-phosphate dehydrogenase deficiency as a factor that predisposes red blood cell to lipid peroxidation and oxidative stress causing a spectrum of diseases including neonatal hyperbilirubinaemia. Clinical manifestations are predominantly neurological, starting with feeding difficulties, progressing to lethargy and coma This autosomal recessive disease can be detected by newborn screening (NBS), allowing its early detection before clinical features are present and reducing irreversible sequelae for the patient. While indirect methods allow the establishment of reference intervals using test results obtained during patient care, available algorithms do not account for continuous change with age. Urine is a preferred non-invasive sample collection method, and this study aims to determine if bilirubin can be detected in the urine of newborns
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