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Liver Disease in Adults with Alpha1-Antitrypsin Deficiency
Abstract
Examination of hepatic tissue obtained at autopsy (13 cases) and by biopsy (one case) from patients with homozygous alpha1-antitrypsin deficiency showed that the hepatocytes contained periodic-acid-Schiff-positive globular material similar to that seen in infantile cirrhosis with alpha1-antitrypsin deficiency. Five of the adult patients had cirrhosis, and three fibrosis of the liver; of these eight, all over 50 years of age, three also had hepatomas. Twelve of the 13 autopsy cases had either bullous or panacinar emphysema. The findings suggest that in alpha1-antitrypsin deficiency liver disease and emphysema are linked to the same genetic defect.
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Citations
Cited by
Risk of Cirrhosis and Primary Liver Cancer in Alpha1-Antitrypsin Deficiency
Eriksson, S., Carlson, J., & Velez, R. (1986) · New England Journal of Medicine · doi:10.1056/nejm198603203141202 · Cited by 580
Self-citationAlpha1-Antitrypsin Deficiency — A Model for Conformational Diseases
Carrell, R. W., & Lomas, D. A. (2002) · New England Journal of Medicine · doi:10.1056/nejmra010772 · Cited by 448
Macrophage activation, chronic inflammation and gastrointestinal disease
Tanner, A. R., Arthur, M. J., & Wright, R. (1984) · Gut · doi:10.1136/gut.25.7.760 · Cited by 70
Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency
Karadagi, A., Cavedon, A. G., Zemack, H., Nowak, G., Eybye, M. E., Zhu, X., Guadagnin, E., White, R. A., Rice, L. M., Frassetto, A. L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-64017-0 · Cited by 54
Brzozowska, N., Wu, L. Y. D., Khodzhaeva, V., Griffiths, W. J., Duckworth, A., Jung, H., Coorens, T. H. H., Hooks, Y., Chambers, J. E., Campbell, P. J., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02125-1 · Cited by 11
Metadata
- Authors
- Berg, N. O., & Eriksson, S.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1972-12-21
- Volume
- 287
- Issue
- 25
- Pages
- 1264-1267
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2324653354
- Cited by
- 264
- References
- 0
- FWCI
- 22.39
- Type
- journal article
- Language
- en
- Open access
- closed
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- Berg, N. O., & Eriksson, S. (1972). Liver Disease in Adults with Alpha1-Antitrypsin Deficiency. New England Journal of Medicine. https://doi.org/10.1056/nejm197212212872502
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
