ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report

Abstract

Introduction: Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge in neonatal care due to its severe respiratory manifestations. This study aims to analyze the clinical data of a newborn male diagnosed with pulmonary surfactant metabolism dysfunction type 3 resulting from ABCA3 gene mutations to provide insights into the management of this condition.

Patient concerns: A newly born male child aged 1 day and 3 hours was referred to our department due to poor crying and shortness of breath.

Diagnosis: Primary diagnoses by the duty physicians were: neonatal pneumonia, neonatal respiratory failure, persistent neonatal pulmonary hypertension, birth asphyxia, myocardial damage, and arteriovenous catheterization. Genetic test revealed a compound heterozygous variant in the ABCA3 gene. One allele may be exon variant c.4561C>T, the second allele may be intron variant c.1896 + 2_1896 + 17del. The associated disease included pulmonary surfactant metabolism dysfunction type 3.

Interventions: He was initially treated with an antiinfective therapeutic regimen.

Outcomes: The family was informed of this condition and signed off, and the child died.

Conclusion: Hereditary pulmonary surfactant deficiency is a rare and untreatable disease. The case highlights the challenges in managing congenital surfactant deficiencies and emphasizes the need for heightened awareness of this rare cause of infant respiratory failure.

Figure 1.

The admission chest X-ray examination shows a significant decrease in the translucency of both lungs, with “white lung”-like changes. The image shows the enhanced texture of both lungs, patches of faint shadows in both lungs, the whole heart shadow, and blurred diaphragmatic surfaces.

Figure 2.

A chest X-ray review after intratracheal drip of lung surface-active substance suggests a slight increase in lung translucency on chest X-ray, proposing a slight improvement in lung perfusion.