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[Inherited metabolic disorders in pediatric emergency services].

M A Molina Gutiérrez1, R López López1, A Morais López2

  • 1Servicio de Urgencias Pediátricas, Hospital Infantil La Paz, Madrid, España.

Anales De Pediatria (Barcelona, Spain : 2003)
|December 10, 2014
PubMed
Summary

Patients with inherited metabolic disorders (IMD) frequently visit Pediatric Emergency Services (PES) for various reasons, including respiratory issues and vomiting. Some visits lead to hospitalization, often due to metabolic decompensation, highlighting the need for specific care protocols.

Keywords:
Descompensación metabólicaEnfermedades metabólicas congénitasInherited metabolic disordersMetabolic decompensationPediatric emergency servicesServicios de urgencias pediátricas

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Area of Science:

  • Pediatric Emergency Medicine
  • Metabolic Disorders
  • Clinical Research

Background:

  • Improved survival in inherited metabolic disorders (IMD) leads to increased non-disease-related Pediatric Emergency Services (PES) visits.
  • Understanding these visits is crucial for optimizing care for IMD patients.

Purpose of the Study:

  • To characterize patient visits to Pediatric Emergency Services (PES) for individuals with inherited metabolic disorders (IMD).
  • To analyze reasons for PES visits, hospitalization rates, and metabolic decompensation in IMD patients.

Main Methods:

  • Retrospective observational study of IMD patient visits to a tertiary hospital's PES (2011-2012).
  • Data collected included IMD type, presenting complaint, symptom duration, hospitalization, and metabolic decompensation.

Main Results:

  • 107 visits analyzed; respiratory processes were the most common reason (30.8%).
  • Vomiting consultations were addressed faster by patients with protein-related disorders.
  • One-third of patients were admitted, with half due to metabolic decompensation.

Conclusions:

  • IMD patients present to PES for diverse reasons, some triggering metabolic decompensation and hospitalization.
  • Low-prevalence IMD necessitates standardized diagnostic and therapeutic protocols for effective emergency care.