ReviewPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Genetic disorders of surfactant dysfunction.
Review in Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 3 of them syntheses 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
130 citing papers in PubMed, 3 syntheses or guidelines pooled it, 279 citations in OpenAlex.
- Relationship between chorioamnionitis or funisitis and lung injury among preterm infants: meta-analysis involved 16 observational studies with 68,397 participants.BMC pediatrics · 2024Pooled it
- Surfactant therapy guided by tests for lung maturity in preterm infants at risk of respiratory distress syndrome.The Cochrane database of systematic reviews · 2023Pooled it
- Systematic review of drug effects in humans and models with surfactant-processing disease.European respiratory review : an official journal of the European Respiratory Society · 2018Pooled it
- Biophysical rationale and emerging clinical perspectives of surfactants in thoracic surgery: a translational review.Langenbeck's archives of surgery · 2026Review
- Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.American journal of respiratory cell and molecular biology · 2026Article
- Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.Clinics in perinatology · 2026Review
- Lipid transport mechanisms in human ABCA family transporters: a structural perspective.Biochemical Society transactions · 2026Review
- Phenotyping persistent pulmonary hypertension of the newborn: recognition of its persistence across world symposium on pulmonary hypertension classifications.Journal of perinatology : official journal of the California Perinatal Association · 2026Review
- The Value of Lung Biopsy in Infants up to 3 Months With Diffuse Lung Disease in a Resource-Limited Setting.Canadian respiratory journal · 2026Article
- Refractory Peripheral Pulmonary Stenosis and Severe Pulmonary Arterial Hypertension Associated With aPulmonary circulation · 2026Article
- The importance of mechanical forces in chronic respiratory diseases.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- HECTD1-mediated SFTPB overexpression in fibrotic lung induced by silica.Biochemistry and biophysics reports · 2025Article
- Treatable Traits in Pediatric Interstitial Lung Diseases: Bridging the Gap to Tailored Therapeutics.Journal of clinical medicine · 2025Review
- Infant Pulmonary Function Testing in Pediatric Diffuse Parenchymal Lung Disease.CHEST pulmonary · 2025Review
- Lentiviral-mediated gene complementation rescues pathogenicbioRxiv : the preprint server for biology · 2025Article
- Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.Transactions of the American Clinical and Climatological Association · 2025Review
- Review
70 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population. Expression of these proteins is regulated developmentally, increasing with gestational age, and is critical for pulmonary surfactant function at birth. Pulmonary surfactant is a unique mixture of lipids and proteins that reduces surface tension at the air-liquid interface, preventing collapse of the lung at the end of expiration. SP-B and ABCA3 are required for the normal organization and packaging of surfactant phospholipids into specialized secretory organelles, known as lamellar bodies, while both SP-B and SP-C are important for adsorption of secreted surfactant phospholipids to the alveolar surface. In general, mutations in the SP-B gene SFTPB are associated with fatal respiratory distress in the neonatal period, and mutations in the SP-C gene SFTPC are more commonly associated with interstitial lung disease in older infants, children, and adults. Mutations in the ABCA3 gene are associated with both phenotypes. Despite this general classification, there is considerable overlap in the clinical and histologic characteristics of these genetic disorders. In this review, similarities and differences in the presentation of these disorders with an emphasis on their histochemical and ultrastructural features will be described, along with a brief discussion of surfactant metabolism. Mechanisms involved in the pathogenesis of lung disease caused by mutations in these genes will also be discussed.
Indexed as
Identifiers
What OpenQuestion holds
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.