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J Pediatr Gastroenterol Nutr. 2015 Jul;61(1):94-101. doi: 10.1097/MPG.0000000000000753.

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

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*Pediatrics and Biochemistry, Saint Louis University, Cardinal Glennon Children's Medical Center, St Louis, MO †Pediatrics and Surgery, University of California San Francisco, San Francisco ‡Biostatistics, University of Michigan, Ann Arbor, MI §Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL ||Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital Los Angeles, Los Angeles, CA ¶Pediatric Gastroenterology and Hepatology, Seattle Children's Hospital, Seattle, WA #Pediatrics, Washington University, St Louis, MO **Pediatrics, Mount Sinai School of Medicine, New York, NY ††Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston ‡‡Pediatric Gastroenterology and Hepatology, Children's Hospital Medical Center, Cincinnati, OH §§Pediatric Gastroenterology, Hepatology and Nutrition, Hospital for Sick Children, Toronto, Canada ||||Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD ¶¶Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA ##Surgery, University of Michigan School of Medicine, Ann Arbor ***Pediatric Gastroenterology, Hepatology and Nutrition, James Whitcomb Riley Hospital for Children, Indianapolis, IN †††Pediatrics, Emory University, Children's Healthcare Atlanta, Atlanta, GA ‡‡‡Pediatrics, University of Pittsburgh, Pittsburgh, PA §§§National Institute of Diabetes, Digestive and Kidney Disease, National Institutes of Health, Baltimore, MD ||||||Pediatric Gastroenterology, University of Colorado, Children's Hospital Colorado, Aurora.



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.


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.


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.


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.


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