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Case Report

Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation

1
II Department of Neonatology, Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, Chair of Neonatology, Poznan University of Medical Sciences, 60-535 Poznan, Poland
2
Department of Family and Paediatric Nursing, Wroclaw Medical University, 50-996 Wroclaw, Poland
3
Department of Otolaryngology, Head and Neck Surgery and Laryngological Oncology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
*
Author to whom correspondence should be addressed.
Academic Editor: Fabiano Di Marco
Diagnostics 2022, 12(5), 1084; https://doi.org/10.3390/diagnostics12051084
Received: 31 March 2022 / Revised: 22 April 2022 / Accepted: 25 April 2022 / Published: 26 April 2022
(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)
Surfactant is a complex of phospholipids and proteins produced in type II pneumocytes. Its deficiency frequently occurs in preterm infants and causes respiratory distress syndrome. In full-term newborns, its absence results from mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes involved in the surfactant metabolism. ABCA3 encodes ATP-binding cassette, which is responsible for transporting phospholipids in type II pneumocytes. We present a case of a male late preterm newborn with inherited surfactant deficiency in whom we identified the likely pathogenic c.604G>A variant in one allele and splice region/intron variant c.4036-3C>G of uncertain significance in the second allele of ABCA3. These variants were observed in trans configuration. We discuss the diagnostic challenges and the management options. Although invasive treatment was introduced, only temporary improvement was observed. We want to raise awareness about congenital surfactant deficiency as a rare cause of respiratory failure in term newborns. View Full-Text
Keywords: inherited surfactant deficiency; neonatal respiratory distress; ABCA3 gene; neonatal respiratory failure; congenital surfactant defects inherited surfactant deficiency; neonatal respiratory distress; ABCA3 gene; neonatal respiratory failure; congenital surfactant defects
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MDPI and ACS Style

Rogulska, J.; Wróblewska-Seniuk, K.; Śmigiel, R.; Szydłowski, J.; Szczapa, T. Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation. Diagnostics 2022, 12, 1084. https://doi.org/10.3390/diagnostics12051084

AMA Style

Rogulska J, Wróblewska-Seniuk K, Śmigiel R, Szydłowski J, Szczapa T. Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation. Diagnostics. 2022; 12(5):1084. https://doi.org/10.3390/diagnostics12051084

Chicago/Turabian Style

Rogulska, Justyna, Katarzyna Wróblewska-Seniuk, Robert Śmigiel, Jarosław Szydłowski, and Tomasz Szczapa. 2022. "Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation" Diagnostics 12, no. 5: 1084. https://doi.org/10.3390/diagnostics12051084

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