ArticleJournal of pediatric gastroenterology and nutrition2014
Appropriateness of newborn screening for α1-antitrypsin deficiency.
Article in Journal of pediatric gastroenterology and nutrition, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand.Respirology (Carlton, Vic.) · 2020Guideline
- Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment.Advances in therapy · 2026Review
- Quantitative protein analysis and glycan profiling of umbilical cord plasma and corresponding maternal plasma samples.Scientific reports · 2026Article
- Case Report: Early recognition of neonatal alpha-1 antitrypsin deficiency: a case of subtle presentation and prompt diagnosis.Frontiers in pediatrics · 2026Article
- Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches.Expert review of respiratory medicine · 2022Review
- Proteoform Profiles Reveal That Alpha-1-Antitrypsin in Human Serum and Milk Is Derived From a Common Source.Frontiers in molecular biosciences · 2022Article
- Variants ofTherapeutic advances in chronic disease · 2021Review
- Advances in managing COPD related to αAllergy · 2018Review
- Alpha-1 antitrypsin deficiency: outstanding questions and future directions.Orphanet journal of rare diseases · 2018Review
- Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Approaches and Future Directions.Current pathobiology reports · 2017Review
- The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2016Review
- Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis.Therapeutic advances in respiratory disease · 2016Review
- Guideline Adherence in Outpatient Clinics for Chronic Obstructive Pulmonary Disease: Results from a Clinical Audit.PloS one · 2016Article
- A Challenging Case of Severe Infantile Cholestasis in Alpha-1 Antitrypsin Deficiency.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyArticle
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency.
methodsA review of natural history and technical data was conducted.
resultsHomozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT deficiency can cause chronic liver disease, cirrhosis, and liver failure in children and adults, and lung disease in adults. The clinical course is highly variable. Some neonates present with cholestatic hepatitis and some children require liver transplantation, but many patients remain well into adulthood. Some adults develop emphysema. There is no treatment for AAT liver disease, other than supportive care and liver transplant. There are no data on the effect of early diagnosis on liver disease. Avoidance of smoking is of proven benefit to reduce future lung disease, as is protein replacement therapy. Justifying newborn screening with the aim of reducing smoking and reducing adult lung disease-years in the future would be a significant paradigm shift for the screening field. Recent passage of the Genetic Information Nondiscrimination Act (GINA) and the Affordable Care Act may have a major effect on reducing the psychosocial and financial risks of newborn screening because many asymptomatic children would be identified. Data on the risk-benefit ratio of screening in the new legal climate are lacking.
conclusionsWorkshop participants recommended a series of pilot studies focused on generating new data on the risks and benefits of newborn screening.
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