Manette Ness-Cochinwala, MD
Pediatric Critical Care Attending
Rutgers Robert Wood Johnson
Miami, Florida
Disclosure information not submitted.
Balagangadhar Totapally, MBBS, MD, DCH, MRCP, FAAP, FCCP, FCCM
Chief, Division of Critical Care Medicine. Program Director, Critical Care Fellowship Program
Nicklaus Children's Hospital, United States
Disclosure information not submitted.
Title: Urea Cycle Disorders in Neonates: A National Database Study
Introduction: Urea cycle disorders (UCDs) in neonates are rare but serious causes of hyperammonemia. We present national epidemiologic, clinical and outcome data on hospitalized neonates with urea cycle disorders.
Methods: A retrospective analysis of the Healthcare Cost and Utilization Project (HCUP) 1997 to 2016 Kids Inpatient Databases (KID) was performed. The database was filtered using ICD-9 and 10 codes 270.6 and E72.xx for urea cycle disorders in neonates (age 28 days). Epidemiologic data and frequencies of complications and interventions were assessed for these patients. Sample weighting was employed to produce national estimates. Complex analysis was used where appropriate. Chi square for trend was done using Epi InfoTM.
Results: Of the 23,904,949 neonatal discharges, 1,109 (95% CI 1,080 – 1,136, 4.6/100,000 hospital discharges) had a UCD with a hospital mortality of 15.2% (n=168, 95% CI 12.6% – 18.2%). Mechanical Ventilation was required in 41.2% (CI 37% - 45%) of cases, central venous access and umbilical lines were placed in 25.8% (CI 23%-29%) and 16.3% (CI 14% -19%) of cases respectively. EEG was utilized in 3.8% of cases and seizures were diagnosed in 4.0% cases (CI 2.5% - 5.5%). Dialysis was required in 13.6% cases (CI 11% -16%) and Extra-Corporeal Membranous Oxygenation in 1.2% of cases. A Do Not Resuscitate Status was present in 2.0% cases.
There was a trend toward higher incidence or diagnosis of UCDs over the studied time period (OR 12.9, p-value < 0.01).
Conclusions: We present one of the largest cohorts of neonatal patients with Urea Cycle Disorders. Neonates with Urea Cycle Disorder frequently require invasive procedures such as mechanical ventilation, hemodialysis and ECMO and have high hospital mortality. There was a trend towards increased incidence or diagnosis over the study period, which may be secondary to improved screening and/or physician awareness and diagnosis.