ReviewCurrent opinion in pediatrics2019
Genetic causes of surfactant protein abnormalities.
Review in Current opinion in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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
37 citing papers in PubMed, 61 citations in OpenAlex.
- Improving the precision of AAV lung gene therapy for SP-B deficiency using computationally derived lung-specific promoters.Gene therapy · 2026Article
- SFTPB Expression Predicts Favorable Survival in Lung Adenocarcinoma but Poor Prognosis in Lung Squamous Cell Carcinoma.Medicina (Kaunas, Lithuania) · 2026Article
- Advances in our understanding of distal progenitors in idiopathic pulmonary fibrosis: implications for novel therapeutics.The European respiratory journal · 2026Review
- Surfactant therapy in neonatal care: advances, challenges, and practical considerations.European journal of pediatrics · 2026Review
- Engraftment of wild-type alveolar type II epithelial cells in surfactant protein C deficient mice.NPJ Regenerative medicine · 2026Article
- No Longer a Great Gulf Fixed? Introduction to anAmerican journal of respiratory and critical care medicine · 2025Article
- The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male.Italian journal of pediatrics · 2025Article
- Review
- Development of a Clinical Risk Assessment Score for Respiratory Distress Due to Respiratory Infections in Early Infancy.Children (Basel, Switzerland) · 2025Article
- Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.Pediatric pulmonology · 2025Review
- Review of Precision Medicine and Diagnosis of Neonatal Illness.Diagnostics (Basel, Switzerland) · 2025Review
- Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.BMC pediatrics · 2025Article
- THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.Transactions of the American Clinical and Climatological Association · 2025Review
- Clinical approach for pulmonary alveolar proteinosis in children.World journal of clinical cases · 2024Article
- Review
- The Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article.Children (Basel, Switzerland) · 2024Review
- Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms ofMedicina (Kaunas, Lithuania) · 2024Article
- Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.International journal of molecular sciences · 2024Review
- Congenital surfactant protein B (SP-B) deficiency: a case report.The Pan African medical journal · 2023Article
- Modulation of natural killer cell exhaustion in the lungs: the key components from lung microenvironment and lung tumor microenvironment.Frontiers in immunology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewMutations in genes encoding proteins critical for the production and function of pulmonary surfactant cause diffuse lung disease. Timely recognition and diagnosis of affected individuals is important for proper counseling concerning prognosis and recurrence risk. RECENT
findingsInvolved genes include those encoding for surfactant proteins A, B, and C, member A3 of the ATP-binding cassette family, and for thyroid transcription factor 1. Clinical presentations overlap and range from severe and rapidly fatal neonatal lung disease to development of pulmonary fibrosis well into adult life. The inheritance patterns, course, and prognosis differ depending upon the gene involved, and in some cases the specific mutation. Treatment options are currently limited, with lung transplantation an option for patients with end-stage pulmonary fibrosis. Additional genetic disorders with overlapping pulmonary phenotypes are being identified through newer methods, although these disorders often involve other organ systems. SUMMARY: Genetic disorders of surfactant production are rare but associated with significant morbidity and mortality. Diagnosis can be made invasively through clinically available genetic testing. Improved treatment options are needed and better understanding of the molecular pathophysiology may provide insights into treatments for other lung disorders causing fibrosis.
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.