TY - JOUR
T1 - Emergency laboratory evaluations for patients with inborn errors of metabolism
AU - Gold, Nina B.
AU - Kritzer, Amy
AU - Weiner, Debra L.
AU - Michelson, Kenneth A.
N1 - Funding Information:
Disclosure: Dr Gold is a recipient of the 2018–2019 Next Generation Medical Biochemical Fellowship Award funded by the American College of Medical Genetics and Shire; however, this funder had no role in this study. Dr Gold is a member of the American College of Graduate Medical Education residency review committee for Genetics and Genomics.
Publisher Copyright:
© 2021 Lippincott Williams and Wilkins. All rights reserved.
PY - 2021/12/1
Y1 - 2021/12/1
N2 - Background: Children with inborn errors of metabolism (IEM) are at risk for metabolic crises triggered by acute illnesses. Crises are identified through laboratory evaluations. Objectives: Our objective was to determine national adherence to minimumlaboratory evaluations for patientswith IEMin emergency departments (EDs), as well as factors associated with laboratory evaluation adherence. Methods: Using the Pediatric Health Information System, we identified visits to 48 EDs from 2012 to 2017 by children with IEM. We analyzed visits for catabolic conditions (dehydration, gastroenteritis, or vomiting) and determined variation in minimum laboratory evaluation adherence. Multivariable models were created to determine predictors of adherence. Results: Among the visits by children with disorders of the urea cycle, organic acid metabolism, and fatty acid oxidation, 1457 (76.3%) of 1909 adhered to the minimum laboratory evaluation. Median ED-level adherence was 78.2% (interquartile range, 67.4-92.5). Factors associated with adherence were disorder [fatty acid oxidation vs urea cycle disorder; adjusted odds ratio (aOR), 9.35; 95% confidence interval (CI), 4.07-21.47], annual ED volume of patients with IEM (quartile 4 vs 1; aOR, 3.58; 95% CI, 1.51-8.49), and presence of a biochemical genetics fellowship (aOR, 0.29; 95% CI, 0.14-0.62). Conclusions: Patients with IEM frequently did not receive minimum laboratory evaluations for catabolic conditions. Measures to improve laboratory use in children with IEM should be undertaken.
AB - Background: Children with inborn errors of metabolism (IEM) are at risk for metabolic crises triggered by acute illnesses. Crises are identified through laboratory evaluations. Objectives: Our objective was to determine national adherence to minimumlaboratory evaluations for patientswith IEMin emergency departments (EDs), as well as factors associated with laboratory evaluation adherence. Methods: Using the Pediatric Health Information System, we identified visits to 48 EDs from 2012 to 2017 by children with IEM. We analyzed visits for catabolic conditions (dehydration, gastroenteritis, or vomiting) and determined variation in minimum laboratory evaluation adherence. Multivariable models were created to determine predictors of adherence. Results: Among the visits by children with disorders of the urea cycle, organic acid metabolism, and fatty acid oxidation, 1457 (76.3%) of 1909 adhered to the minimum laboratory evaluation. Median ED-level adherence was 78.2% (interquartile range, 67.4-92.5). Factors associated with adherence were disorder [fatty acid oxidation vs urea cycle disorder; adjusted odds ratio (aOR), 9.35; 95% confidence interval (CI), 4.07-21.47], annual ED volume of patients with IEM (quartile 4 vs 1; aOR, 3.58; 95% CI, 1.51-8.49), and presence of a biochemical genetics fellowship (aOR, 0.29; 95% CI, 0.14-0.62). Conclusions: Patients with IEM frequently did not receive minimum laboratory evaluations for catabolic conditions. Measures to improve laboratory use in children with IEM should be undertaken.
KW - Genetics
KW - Inborn errors of metabolism
KW - Laboratory evaluations
KW - Metabolic disease
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U2 - 10.1097/PEC.0000000000001936
DO - 10.1097/PEC.0000000000001936
M3 - Article
C2 - 31738301
AN - SCOPUS:85121461614
SN - 0749-5161
VL - 37
SP - E1154-E1159
JO - Pediatric emergency care
JF - Pediatric emergency care
IS - 12
ER -