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Author Notes:

Address correspondence and reprint requests to Jeffrey H. Teckman, MD, Pediatrics and Biochemistry and Molecular Biology, Saint Louis University School of Medicine, 1465 S Grand Blvd, St Louis, MO 63104 (e-mail: teckmanj@slu.edu).

The authors report no conflicts of interest.


Research Funding:

This work was supported by funding from the Alpha-1 Foundation (University of Colorado Denver and Saint Louis University School of Medicine) and by U01 grants from the National Institute of Diabetes, Digestive and Kidney Diseases and from the National Center for Advancing Translational Sciences (NCATS) UL1 grants: DK 62445 (Mt. Sinai School of Medicine), DK 62497 and UL1 TR000077 (Cincinnati Children's Hospital Medical Center, University of Cincinnati), DK 62470 (Baylor College of Medicine) DK 62470 (Children's Healthcare of Atlanta, Emory University), DK 62481 and UL1 TR000003 (The Children's Hospital of Philadelphia, University of Pennsylvania), DK 62456 (University of Michigan), DK 84536 and UL1 TR000006 (Riley Hospital for Children, Indiana University), DK 84575 and UL1 TR000423 (Seattle Children's Hospital, University of Washington), DK 62500 and UL1 TR000004 (UCSF Children's Hospital, University of California San Francisco), DK 62503 and UL1 TR000424 (Johns Hopkins School of Medicine), DK 62466 and UL1 UL1 TR000005 (Children's Hospital of Pittsburgh, University of Pittsburgh), DK 62453 and UL1 000154 (University of Colorado Denver, The Children's Hospital Denver), DK 62452 and UL1 TR000448 (Washington University School of Medicine, St. Louis, St. Louis Children's Hospital), DK 84538 and UL1 TR000130 (Children's Hospital Los Angeles, University of Southern California), DK 62436 and UL1 TR000150 (Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University).


  • Science & Technology
  • Life Sciences & Biomedicine
  • Gastroenterology & Hepatology
  • Nutrition & Dietetics
  • Pediatrics
  • cirrhosis
  • jaundice
  • liver enzymes
  • liver transplant
  • metabolic liver disease

Baseline Analysis of a Young alpha-1-Antitrypsin Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension

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Journal Title:

Journal of Pediatric Gastroenterology and Nutrition


Volume 61, Number 1


, Pages 94-101

Type of Work:

Article | Post-print: After Peer Review


Objectives: α-1-Antitrypsin (A1AT) deficiency is a common genetic disease with an unpredictable and highly variable course. The Childhood Liver Disease Research and Education Network is a National Institutes of Health, multicenter, longitudinal consortium studying pediatric liver diseases, with the objective of prospectively defining natural history and identifying disease modifiers. Methods: Longitudinal, cohort study of A1AT patients' birth through 25 years diagnosed as having liver disease, type PIZZ or PISZ. Medical history, physical examination, laboratory, imaging, and standardized survey tool data were collected during the provision of standard of care. Results: In the present report of the cohort at baseline, 269 subjects were enrolled between November 2008 and October 2012 (208 with their native livers and 61 postliver transplant). Subjects with mild disease (native livers and no portal hypertension [PHT]) compared to severe disease (with PHT or postliver transplant) were not different in age at presentation. A total of 57% of subjects with mild disease and 76% with severe disease were jaundiced at presentation (P = 0.0024). A total of 29% of subjects with native livers had PHT, but age at diagnosis and growth were not different between the no-PHT and PHT groups (P > 0.05). Subjects with native livers and PHT were more likely to have elevated bilirubin, ALT, AST, INR, and GGTP than the no-PHT group (P << 0.001), but overlap was large. Chemistries alone could not identify PHT. Conclusions: Many subjects with A1AT presenting with elevated liver tests and jaundice improve spontaneously. Subjects with PHT have few symptoms and normal growth. Longitudinal cohort follow-up will identify genetic and environmental disease modifiers.

Copyright information:

© 2015 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition

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