Response to Inhaled Nitric Oxide and Clinical Outcome in Very Low Birth Weight Infants with Early Pulmonary Hypertension

Purpose@#To determine the efficacy of inhaled nitric oxide (iNO) in very low birth weight (VLBW) infants with early pulmonary hypertension (PH). @*Methods@#We reviewed the medical records of 22 preterm infants who were born 20% and/or oxygenation index (OI) >20% from the baseline values at 1 hour after beginning iNO therapy. Cardiorespiratory support indices including OI, oxygen saturation index, and vasoactive-inotropic score (VIS) were serially obtained for 96 hours following iNO therapy. @*Results@#The mean gestational age of the patients was 26.1±2.0 weeks and the mean birth weight was 842±298 g. The mean OI at the start of iNO was 63.8±61.0. Impro vement in oxygenation indicated by prompt decrease in FiO 2 and OI from the base line values were observed 1 hour after beginning iNO therapy and lasted up to 96 hours. After iNO therapy, VIS increased until 24 hours and decreased thereafter. At 1 hour after iNO, 16 patients (73%) were classified as responders and six (27%) as nonresponders. Compared with nonresponders, responders did not demonstrate the beneficial effect of iNO in terms of short-term survival and neonatal complications.The 1-year mortality rate did not differ between responders (56%) and nonresponders (67%). @*Conclusion@#Although iNO treatment immediately improved oxygenation in most VLBW infants with early severe PH, the long-term mortality rate was high. A largescale study is needed to determine whether the initial response to iNO can predict patients’ survival.

A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.

Continuous Renal Replacement Therapy in the Neonatal Intensive Care Unit: A Single-Center Study

PURPOSE: Continuous renal replacement therapy (CRRT) has become an essential modality for the care of critically ill pediatric patients who require renal support. However, experience with CRRT in the neonatal population is not common in Korea. In this study, we aimed to investigate the clinical features, outcomes, and complications of CRRT in neonates in a single neonatal intensive care unit (NICU). METHODS: We reviewed the medical records of 17 neonates who underwent CRRT at a NICU of a tertiary hospital. The data included demographic characteristics, diagnosis, complications, and laboratory and CRRT parameters. RESULTS: The median age at initiation of CRRT was 6 days after birth. All patients were treated with CRRT in continuous venovenous hemodiafiltration mode, with a median treatment duration of 57 hours. The main indication for CRRT was an inborn error of metabolism (IEM), followed by congenital renal disease and multiorgan failure. In patients with an IEM, the median plasma ammonia level at the CRRT initiation was 1,232 micromol/L, and the mean duration until the ammonia level decreased to half of the peak ammonia level was 7.3+/-2.5 hours. The overall hospital mortality rate was 41.2%. The outcomes of the 10 survivors after discharge included death (n=2), loss to follow-up (n=3), and survival with developmental delay (n=4). CONCLUSION: Although CRRT was effective in lowering the plasma ammonia level of neonates with IEM, the associated mortality and morbidity were high. Hence, further studies are needed to optimize the CRRT protocol and to establish an effective patient referral system in Korea.