We present the investigation and management of a premature, hypotensive neonate born after a pregnancy complicated by anhydramnios to highlight the impact of early and informed management for rare kidney disease. Vasopressin was used to successfully treat refractory hypotension and anuria in the neonate born at 27 weeks of gestation. Next generation sequencing of a targeted panel of genes was then performed in the neonate and parents. Subsequently, two compound heterozygous deletions leading to frameshift mutations were identified in the angiotensin 1-converting enzyme gene ACE; exon 5:c.820_821delAG (p.Arg274Glyfs*117) and exon24: c.3521delG (p.Gly1174Alafs*12), consistent with a diagnosis of renal tubular dysgenesis. In light of the molecular diagnosis, identification, and treatment of associated low aldosterone level resulted in further improvement in renal function and only mild residual chronic renal failure is present at 14 months of age. Truncating alterations in ACE most often result in fetal demise during gestation or in the first days of life and typically as a result of the Potter sequence. The premature delivery, and serendipitous early treatment with vasopressin, and then later fludrocortisone, resulted in an optimal outcome in an otherwise lethal condition.
Objectives Despite increased evidence that point-of-care ultrasound (POCUS) has the potential to improve patient care in many clinical areas, the extent of use and training in POCUS in Canadian neonatal intensive care units (NICUs) has not been described in the literature. In this study, we aimed to explore the extent to which POCUS is being used and the need for a formal curriculum with defined POCUS competencies in the field of Neonatal-Perinatal Medicine (NPM). Methods We sent a cross-sectional electronic survey to all NPM program directors and fellows in Canada. All 13 Canadian NPM programs were invited to participate. Data were analyzed using descriptive statistics and qualitative content analysis. Results The response rate was 69% (n = 9) from program directors (PDs) and 29% (n = 25) from NPM fellows. Most respondents indicated regular use of POCUS in clinical practice and ready access to a portable ultrasound machine. The most common use for POCUS was targeted assessment of patent ductus arteriosus (PDA) and persistent pulmonary hypertension (PPHN). Only six PDs reported that POCUS skills are taught to trainees in their centers and only two PDs reported that a structured program existed. Barriers to POCUS structured training include a lack of trained personnel as well as insufficient time in the busy NPM curriculum. Conclusion POCUS is widely used in Canadian NICUs. However, a formal curriculum and assessment of competencies in this area of neonatal clinical care are lacking.
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