| Title: |
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease |
| Authors: |
Gregorio Serra; Veronica Notarbartolo; Vincenzo Antona; Caterina Cacace; Maria Rita Di Pace; Daniela Mariarosa Morreale; Marco Pensabene; Ettore Piro; Ingrid Anne Mandy Schierz; Maria Sergio; Giuseppina Valenti; Mario Giuffre; Giovanni Corsello |
| Contributors: |
Gregorio Serra, Veronica Notarbartolo, Vincenzo Antona, Caterina Cacace, Maria Rita Di Pace, Daniela Mariarosa Morreale, Marco Pensabene, Ettore Piro, Ingrid Anne Mandy Schierz, Maria Sergio, Giuseppina Valenti, Mario Giuffre, Giovanni Corsello |
| Publication Year: |
2025 |
| Collection: |
IRIS Università degli Studi di Palermo |
| Subject Terms: |
chILD; interstitial disease; newborn; surfactant; respiratory insufficiency |
| Description: |
Background: Children’s interstitial and diffuse lung diseases, commonly referred to as “chILDs”, include around 200 rare conditions that disrupt normal lung function. They are classified, based on etiopathogenesis, into several subgroups, having a varied and multifaceted clinical presentation depending on the type of genetic mutation present. Methods and Results: We describe the case of a late preterm newborn presenting soon after birth with respiratory distress syndrome poorly responsive to surfactant administration, in whom a targeted gene panel analysis for pulmonary congenital diseases, performed using next-generation sequencing (NGS), revealed a novel compound heterozygous variant of the ATP-Binding-Cassette-Subfamily-A-Member-3 (ABCA3) gene. A review of the literature on the subject completes our work. Conclusions: Molecular genetic analysis has become crucial for a more targeted therapeutic treatment, along with the only current curative treatment option that is lung transplantation. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/40507465; info:eu-repo/semantics/altIdentifier/wos/WOS:001505632600001; volume:14; issue:11; firstpage:1; lastpage:16; numberofpages:16; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/10447/682025 |
| DOI: |
10.3390/jcm14113704 |
| Availability: |
https://hdl.handle.net/10447/682025; https://doi.org/10.3390/jcm14113704 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.D2243C90 |
| Database: |
BASE |