{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T17:17:39Z","timestamp":1791566259844,"version":"4.3.4"},"reference-count":34,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T00:00:00Z","timestamp":1650931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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&gt;A variant in one allele and splice region\/intron variant c.4036-3C&gt;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.<\/jats:p>","DOI":"10.3390\/diagnostics12051084","type":"journal-article","created":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T11:45:55Z","timestamp":1650973555000},"page":"1084","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Diagnostic Challenges in Neonatal Respiratory Distress\u2014Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation"],"prefix":"10.3390","volume":"12","author":[{"given":"Justyna","family":"Rogulska","sequence":"first","affiliation":[{"name":"II Department of Neonatology, Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, Chair of Neonatology, Poznan University of Medical Sciences, 60-535 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3908-6617","authenticated-orcid":false,"given":"Katarzyna","family":"Wr\u00f3blewska-Seniuk","sequence":"additional","affiliation":[{"name":"II Department of Neonatology, Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, Chair of Neonatology, Poznan University of Medical Sciences, 60-535 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-9549","authenticated-orcid":false,"given":"Robert","family":"\u015amigiel","sequence":"additional","affiliation":[{"name":"Department of Family and Paediatric Nursing, Wroclaw Medical University, 50-996 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaros\u0142aw","family":"Szyd\u0142owski","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery and Laryngological Oncology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5214-2719","authenticated-orcid":false,"given":"Tomasz","family":"Szczapa","sequence":"additional","affiliation":[{"name":"II Department of Neonatology, Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, Chair of Neonatology, Poznan University of Medical Sciences, 60-535 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-4-26","article-title":"Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany","volume":"4","author":"Griese","year":"2009","journal-title":"Orphanet J. 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