Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit

Abstract

The authors conducted a retrospective analysis of the patients admitted to a pediatric intensive care unit (PICU) during a five-year period, with specific focus on those with a suspected or confirmed diagnosis of inborn errors of metabolism (IEM), in order to ascertain the resources required to care for these patients. Medical records were reviewed for all admissions between January 1998 and December 2002 in a single metabolic referral center, and a subset of patients were identified with suspected IEM at admission or diagnosed IEM at hospital discharge. These patient charts were then further reviewed and the following information was extracted: IEM diagnosis, demographic data, biochemical characteristics at admission, need for mechanical ventilation, use of extracorporeal removal therapy, and outcome at PICU discharge. The study population comprised 70 patients (2.2% of all admissions during the study period) and included 33 neonates and 37 children aged >28 days. IEM diagnosis was known at the time of admission to the PICU in 9/33 of the neonates and 23/37 of the older children. Forty-three of the patients required invasive mechanical ventilation, while continuous extracorporeal removal therapy was used in 27 children. The median length of PICU stay was 3 days (range, 1 to 13 days) and 20 patients (28.6%) died. In conclusion, these observations show that inherited metabolic disease may be as frequent a primary diagnosis as septic shock in some PICUs. In neonates, these diseases are not usually diagnosed prior to PICU admission. Patients with IEM admitted to a PICU require aggressive support (including mechanical ventilation and extracorporeal removal therapies), and consume significant resources for relatively short PICU stays. These patients constitute a significant diagnostic and therapeutic challenge for pediatric intensivists.

Inborn errors of metabolism in a neonatology unit: Impact and long‐term results

“…Treatment of our patients frequently included extracorporeal removal therapy, especially if they had endogenous intoxication (50%). This finding is similar to other series published (30% or more) 8,14,15 . The most frequent technique used was veno‐venous eodiafiltration, which has proved efficacy.…”

“…The incidence of IEM in our NICU was 1.63% during the studied period, lower than the 2.2% reported by Jouvet et al 8 . in ICUs (pediatric and neonatal).…”

“…As yet, there are hardly any studies published reflecting the impact of IEM in neonatology services and the assessment of the factors involved in its early diagnosis and therapeutic intervention 8 . We conducted a retrospective analysis of patients admitted to our Neonatology Service from July 2000 (when NBS by MS/MS was introduced) to December 2008, and compared the neonatal screening and clinical diagnosis, as well as studied the long‐term development.…”

Profile of inborn errors of metabolism in a tertiary care centre PICU

“…13 Though usually diagnosed by increased excretion of malonic acid in urine and enzymatic analysis/genetic studies, increased malonylcarnitine on TMS has a high specificity for the detection of malonic acidemia. 14 Mortality was seen in 4 out of 11 patients (36%), compared to 28.6% in the study by Jouvet P et al 1 The higher mortality rate in our study could be because of the sparing use of extracorporeal removal therapy like peritoneal or hemodialysis and different types of IEM in our study.…”

“…Several of these diseases constitute acute emergencies amenable to life-saving therapy. 1 As awareness of these metabolic disorders increases, more cases are bound to be recognized masquerading, as minor illnesses getting complicated with severe manifestations. An earlier recognition of these IEM has the potential to reduce morbidity and mortality rates in the children.…”