ReviewTranslational gastroenterology and hepatology2021
Alpha-1 antitrypsin deficiency liver disease.
Review in Translational gastroenterology and hepatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07639996 (Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.), which is not on this map. Cited by 17 papers.
What it found
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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.
Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.
Who cites it
17 citing papers in PubMed, 41 citations in OpenAlex.
- Association between alpha 1-antitrypsin levels and intracranial aneurysms: a case-control study.Arquivos de neuro-psiquiatria · 2026Article
- Case Report: Early recognition of neonatal alpha-1 antitrypsin deficiency: a case of subtle presentation and prompt diagnosis.Frontiers in pediatrics · 2026Article
- Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine.Hepatology communications · 2025Review
- Team players in the pathogenesis of metabolic dysfunctions-associated steatotic liver disease: The basis of development of pharmacotherapy.World journal of gastrointestinal pathophysiology · 2024Review
- Tracing genetic diversity captures the molecular basis of misfolding disease.Nature communications · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Berberine potentiates liver inflammation and fibrosis in the PI*Z hAAT transgenic murine model.PloS one · 2024Article
- Biomarkers Associated With Future Severe Liver Disease in Children With Alpha-1-Antitrypsin Deficiency.Gastro hep advances · 2024Article
- Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance.Hepatology communications · 2023Article
- Cardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions.Journal of clinical medicine · 2023Article
- Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency.GE Portuguese journal of gastroenterology · 2023Review
- Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis.Cell chemical biology · 2023Article
- Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests.Diagnostics (Basel, Switzerland) · 2023Review
- Placental proteome in late‑onset of fetal growth restriction.Molecular medicine reports · 2022Article
- The Relationship between Plasma Alpha-1-Antitrypsin Polymers and Lung or Liver Function in ZZ Alpha-1-Antitrypsin-Deficient Patients.Biomolecules · 2022Article
- Rare and undiagnosed liver diseases: challenges and opportunities.Translational gastroenterology and hepatology · 2021Article
- ER Disposal Pathways in Chronic Liver Disease: Protective, Pathogenic, and Potential Therapeutic Targets.Frontiers in molecular biosciences · 2021Review
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical presentation of liver disease is highly variable in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency, and not all patients with the homozygous ZZ genotype develop liver disease. Although not fully identified, there is likely a strong influence of genetic and environmental modifiers of the intracellular injury cascade and fibrotic response. Most ZZ children are well and remain undiagnosed. Of those who come to medical attention, the most common pediatric presentation is neonatal cholestatic hepatitis, sometimes referred to as "neonatal hepatitis syndrome". The gold standard for diagnosis of AAT deficiency is analysis of the AAT protein phenotype in the patient serum or the genotype of their DNA genome. Careful follow up of all diagnosed children is important. Heterozygotes for S and Z alleles of AAT (SZ) may develop progressive liver disease similar to ZZ patients and also require close monitoring. There is no specific treatment for AAT deficiency induced liver disease and current therapy remains supportive with management of complications. Rarely, patients require liver transplant and typically the patient outcomes are excellent. With improved understanding of liver injury mechanisms, new strategies for treatment are now being explored, including siRNA technology, molecules to modulate secretion, and enhancers of proteolysis.
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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.