Multiprofessional Critical Care Review: Pediatric 2024 (MCCRCP24ON)-Algorithms for Metabolic, Rheumatologic, Etc.

Video Transcription

Video Summary

This lecture provides an overview of inborn errors in metabolism and rheumatological diseases. Inborn errors in metabolism occur when there is a deficiency or dysfunction in an enzyme, leading to a decrease in metabolite or an increase in substrate. Stressful events can unmask these deficiencies and lead to clinical manifestations. Common presentations of inborn errors in metabolism include neurological symptoms, gastrointestinal symptoms, and jaundice/liver dysfunction. Diagnosis involves sending various lab tests such as glucose, electrolytes, liver function tests, and urine studies. Management focuses on supportive care, correcting electrolyte imbalances, addressing secondary infections, and optimizing nutrition. Algorithms are provided to help diagnose specific inborn errors in metabolism, such as hyperammonemia and metabolic acidosis. Rheumatological diseases discussed include lupus, juvenile idiopathic arthritis (JIA), systemic vasculitis, and primary CNS vasculitis. The clinical presentations, diagnostic evaluations, and treatment options for each disease are discussed. Systemic JIA may present with macrophage activation syndrome, a severe complication requiring prompt treatment. Primary CNS vasculitis may present with stroke-like events and requires immunosuppressive therapies. The lecture provides recommendations for lab and imaging evaluations for suspected inflammatory brain disease and CNS vasculitis.

Meta Tag

Concept Inborn Errors of Metabolism

Concept Hyperammonemia

Concept Urea Cycle Disorder

Concept Organic Acidemias

Concept Macrophage Activation Syndrome

Keywords

inborn errors in metabolism

deficiency in enzyme

neurological symptoms

metabolic acidosis

rheumatological diseases

juvenile idiopathic arthritis

macrophage activation syndrome

primary CNS vasculitis

Inborn Errors of Metabolism

Hyperammonemia

Urea Cycle Disorder

Organic Acidemias

Macrophage Activation Syndrome

	Society of Critical Care Medicine 500 Midway Drive Mount Prospect, IL 60056 USA Phone: +1 847 827-6888 Fax: +1 847 439-7226 Email: support@sccm.org	Contact Us About SCCM Newsroom Advertising & Sponsorship DONATE	MySCCM LearnICU Patients & Families Surviving Sepsis Campaign Critical Care Societies Collaborative	GET OUR NEWSLETTER
© Society of Critical Care Medicine. All rights reserved. \| Privacy Statement \| Terms & Conditions The Society of Critical Care Medicine, SCCM, and Critical Care Congress are registered trademarks of the Society of Critical Care Medicine.