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Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit
Patrícia Lipari1, Zakhar Shchomak1, Leonor Boto2
1Department of Pediatrics, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Insights
Pediatric intensive care unit (PICU) admissions for inborn errors of metabolism (IEM) are often due to acute decompensation, requiring specialized care. These complex cases highlight the need for dedicated resources to improve outcomes for children with IEM.
Area of Science:
- Pediatric Intensive Care
- Metabolic Disorders
- Genetics
Background:
- Limited data exists on the resources and care for pediatric patients with inborn errors of metabolism (IEM) in the pediatric intensive care unit (PICU).
- Understanding these admissions is crucial for improving future diagnostic and therapeutic strategies.
Purpose of the Study:
- To characterize the profile of pediatric patients with IEM admitted to the PICU.
- To identify common causes of admission, clinical presentations, and interventions required.
Main Methods:
- Retrospective analysis of 88 PICU admissions (from 65 children) with clinical features of IEM between 2009 and 2019.
- Data collected included demographics, diagnosis, reason for admission, clinical presentation, interventions, and outcomes.
Main Results:
- Inborn errors of metabolism accounted for 2% of all PICU admissions.
- The most frequent causes for admission were metabolic decompensation (62 admissions), particularly infection, and respiratory failure or neurological deterioration.
- Mechanical ventilation, parenteral nutrition, and extracorporeal removal therapy were utilized, with 8 patient deaths reported.
Conclusions:
- Acute decompensation is the primary reason for PICU admission in pediatric patients with IEM.
- The complexity of IEM necessitates specialized resources and expertise for optimal patient management and survival.
Abstract:
Few studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% ( n = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days-21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection-38, neonatal period decompensation-14, external accident-5, prolonged fasting-2, and therapeutic noncompliance-3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours-35 days). Eight patients died during the studied period (cerebral edema-2, massive hemorrhage-5, and malignant arrhythmia-1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.
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