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Digestive Diseases and Sciences
Published in: Digestive Diseases and Sciences 8/2014

01-08-2014 | Stanford Multidisciplinary Seminars

Misdiagnosis of Alpha-1 Antitrypsin Phenotype in an Infant with CMV Infection and Liver Failure

Authors: Patricio Arias, John Kerner, Megan Christofferson, William Berquist, K. T. Park

Published in: Digestive Diseases and Sciences | Issue 8/2014

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Excerpt

A 4-month-old female with a history of neonatal cholestasis was initially evaluated with jaundice, ascites, coagulopathy, and worsening aminotransferase levels. …
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Snyder MR, Katzmann JA, Butz ML, et al. Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping. Clin Chem. 2006;52:2236.PubMedCrossRef
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Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: a review. Am J Gastroenterol. 2008;103:2136.PubMedCrossRef
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Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature. 1992;357:605.PubMedCrossRef
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Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294:1316.PubMedCrossRef
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Perlmutter DH, Brodsky JL, Balistreri WF, Trapnell BC. Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review. Hepatology. 2007;45:1313.PubMedCrossRef
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Teckman JH, Qu D, Perlmutter DH. Molecular pathogenesis of liver disease in alpha1-antitrypsin deficiency. Hepatology. 1996;24:1504.PubMed
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Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med. 1986;314:736.PubMedCrossRef
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Wall M, Moe E, Eisenberg J, et al. Long-term follow-up of a cohort of children with alpha-1-antitrypsin deficiency. J Pediatr. 1990;116:248.PubMedCrossRef
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Hussain M, Mieli-Vergani G, Mowat AP. Alpha 1-antitrypsin deficiency and liver disease: clinical presentation, diagnosis and treatment. J Inherit Metab Dis. 1991;14:497.PubMedCrossRef
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Kemmer N, Kaiser T, Zacharias V, Neff GW. Alpha-1-antitrypsin deficiency: outcomes after liver transplantation. Transplant Proc. 2008;40:1492.PubMedCrossRef
Metadata
Title
Misdiagnosis of Alpha-1 Antitrypsin Phenotype in an Infant with CMV Infection and Liver Failure
Authors
Patricio Arias
John Kerner
Megan Christofferson
William Berquist
K. T. Park
Publication date
01-08-2014
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 8/2014
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-014-3094-6

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