ReviewSeminars in fetal & neonatal medicine2023
Towards personalized therapies for genetic disorders of surfactant dysfunction.
Review in Seminars in fetal & neonatal medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Old and emerging therapies for childhood interstitial lung disease (chILD): a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- Regenerative strategies for surfactant deficiency in neonatal and pediatric lung disease: the role of mesenchymal stem cells and their extracellular vesicles.Frontiers in cell and developmental biology · 2026Review
- Genetic Familial Interstitial Lung Disease.Clinics in chest medicine · 2025Review
- Treatable Traits in Pediatric Interstitial Lung Diseases: Bridging the Gap to Tailored Therapeutics.Journal of clinical medicine · 2025Review
- A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.Italian journal of pediatrics · 2025Article
- Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to Glucocorticoid.Indian journal of pediatrics · 2025Article
- Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases.Pediatric pulmonology · 2025Observational
- Moving on from clinical animal-derived surfactants to peptide-based synthetic pulmonary surfactant.American journal of physiology. Lung cellular and molecular physiology · 2024Review
- Cyclosporine A in children with ABCA3 deficiency.Pediatric pulmonology · 2024Article
- Review
- Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades.Orphanet journal of rare diseases · 2024Article
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Clinical and research innovations in childhood interstitial lung disease (chILD).Pediatric pulmonology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Genetic disorders of surfactant dysfunction are a rare cause of chronic, progressive or refractory respiratory failure in term and preterm infants. This review explores genetic mechanisms underpinning surfactant dysfunction, highlighting specific surfactant-associated genes including SFTPB, SFTPC, ABCA3, and NKX2.1. Pathogenic variants in these genes contribute to a range of clinical presentations and courses, from neonatal hypoxemic respiratory failure to childhood interstitial lung disease and even adult-onset pulmonary fibrosis. This review emphasizes the importance of early recognition, thorough phenotype assessment, and assessment of variant functionality as essential prerequisites for treatments including lung transplantation. We explore emerging treatment options, including personalized pharmacological approaches and gene therapy strategies. In conclusion, this comprehensive review offers valuable insights into the pathogenic mechanisms of genetic disorders of surfactant dysfunction, genetic fundamentals, available and emerging therapeutic options, and underscores the need for further research to develop personalized therapies for affected infants and children.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.