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Key Clinical Message: Pseudohypoaldosteronism (PHA) is a rare disease that can cause life‐threatening hyperkalemia, which could lead to cardiac arrest and death if not recognized and treated quickly. We report a case of a neonate who was diagnosed with PHA type 1 and found to have a novel variant gene mutation on the NR3C2 gene. A 5‐day‐old newborn presented in cardiac arrest with severe hyperkalemia, hyponatremia, and metabolic acidosis. Hypothermia treatment was initiated due to suspected hypoxic‐ischemic encephalopathy as well as electrolyte management with IV fluids and bicarbonate for the metabolic acidosis. Clinical suspicion and subsequent diagnostic testing led to a diagnosis of the renal form of PHA type 1. Genetic testing revealed a novel mutation on the NR3C2 gene of unknown significance (c.2891_2893dup plle964dup). The baby was discharged home on supplemental sodium and high‐calorie formula for catch‐up growth. Outpatient follow‐up is ongoing, and the dose of sodium supplement was slowly decreased and discontinued at 2 years. There is evidence for developmental delays which is likely secondary to the cardiac arrest although the MRI during hospitalization was noted to be within normal limits. Having a high clinical suspicion for pseudohypoaldosteronism is paramount to initiating treatment and preventing potential cardiac arrest and death in these patients. Novel mutations such as this one need to be further explored to determine their significance with this disease.

OBJECTIVE: In preterm infants, the standard pharmacologic treatment for a hemodynamically significant patent ductus arteriosus (hsPDA) is either ibuprofen or indomethacin. However, these medications may be less effective after 2 weeks of age. We investigated the use of acetaminophen in hsPDA closure beyond 2 weeks of age. METHODS: An observational study of 11 infants, 2 weeks, who received acetaminophen treatment for their hsPDA. Echocardiograms (ECHOs), B-type natriuretic peptide (BNP) levels, and the fraction of inspired oxygen (FiO₂) were obtained before and after treatment to analyze ductal characteristics. Renal and liver functions were monitored pretreatment and posttreatment to look for potential medication side effects. RESULTS: Of the 10 infants with ECHO data for before and after acetaminophen treatments, 4/10 (40%) had a decrease in PDA size, with no infants having complete closure immediately posttreatment. Eight of 11 (73%) infants had a decreased FiO₂ requirement after treatment. Of the 5 infants with pretreatment and posttreatment BNP data, 2/5 (40%) infants had a decrease in BNP level. One infant received an additional course of acetaminophen. Four infants underwent a surgical ligation. Two infants died. No medication side effects occurred with regard to hepatic and renal function. CONCLUSION: Acetaminophen is a safe and effective pharmacologic treatment to reduce the significance of the hsPDA in some infants beyond 2 weeks of age, as shown by ECHO and BNP data.

Continuous improvement in the clinical performance of neonatal intensive care units (NICU) depends on the use of locally relevant, reliable data. However, neonatal databases with these characteristics are typically unavailable in NICUs using paper-based records, while in those using electronic records, the inaccuracy of data and the inability to customize commercial data systems limit their usability for quality improvement or research purposes. We describe the characteristics and uses of a simple, neonatologist-centered data system that has been successfully maintained for 30 years, with minimal resources and serving multiple purposes, including quality improvement, administrative, research support and educational functions. Structurally, our system comprises customized paper and electronic components, while key functional aspects include the attending-based recording of diagnoses, integration into clinical workflows, multilevel data accuracy and validation checks, and periodic reporting on both data quality and NICU performance results. We provide examples of data validation methods and trends observed over three decades, and discuss essential elements for the successful implementation of this system. This database is reliable and easily maintained; it can be developed from simple paper-based forms or used to supplement the functionality and end-user customizability of existing electronic medical records. This system should be readily adaptable to NICUs in either high- or limited-resource environments.