Multiprofessional Critical Care Review: Pediatric (2023)-Algorithms for Metabolic, Rheumatologic, Etc.

Video Transcription

Video Summary

The lecture covers inborn errors in metabolism and rheumatological diseases. It talks about the different algorithms for diagnosing inborn errors in metabolism and the key points for mitochondrial disorders. It also reviews some key rheumatological disorders. Inborn errors in metabolism occur when there is a deficiency or dysfunction in an enzyme, which leads to a decrease in metabolite or an increase in substrate. The lecture focuses on a select few inborn errors of metabolism, such as urea cycle defects, maple syrup urine disease, methylmalonic acidemia, and others. It explains the presentations, laboratory findings, and management of these disorders. For diagnosing inborn errors in metabolism, various labs and tests are performed, including glucose, electrolytes, liver function tests, amino acid studies, and urine organic acid tests. The lecture also provides an overview of the general principles for managing a child with a suspected inborn error of metabolism, which includes supportive care, correction of electrolyte imbalances, nutrition management, and early diagnosis. The second part of the lecture focuses on rheumatological diseases, including lupus, juvenile idiopathic arthritis, systemic vasculitis, and primary CNS vasculitis. It discusses the clinical presentation, diagnosis, and treatment options for these diseases. The lecture emphasizes the importance of early diagnosis and appropriate management for better outcomes.

Keywords

inborn errors in metabolism

rheumatological diseases

mitochondrial disorders

diagnosis

laboratory findings

management

early diagnosis

treatment options

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