Advertisement

Digestive Diseases and Sciences

, Volume 59, Issue 8, pp 1710–1713 | Cite as

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

  • Patricio Arias
  • John Kerner
  • Megan Christofferson
  • William Berquist
  • K. T. Park
Stanford Multidisciplinary Seminars

Case Presentation and Evolution

A 4-month-old female with a history of neonatal cholestasis was initially evaluated with jaundice, ascites, coagulopathy, and worsening aminotransferase levels.

At 5 weeks of age, her parents had noticed “yellowing” of her eyes and skin accompanied by a slightly more pale appearance of her regularly yellow-colored stools. Initially, she was noted to have conjugated hyperbilirubinemia, with total bilirubin 6.5 and conjugated 4.5, aspartate aminotransferase (AST) 163, alanine aminotransferase (ALT) 103, and elevated alkaline phosphatase. Liver ultrasound was normal. A percutaneous liver biopsy, obtained due to her continued unexplained cholestasis, was reported as showing possible large duct obstruction and bile duct proliferation, suggestive of extrahepatic biliary atresia. A subsequent endoscopic retrograde cholangiopancreatography (ERCP) and intraoperative cholangiogram showed no anatomic abnormalities in the intrahepatic and extra hepatic biliary...

Keywords

Ganciclovir Biliary Atresia Rifaximin A1AT Deficiency SERPINA1 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    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.PubMedCrossRefGoogle Scholar
  2. 2.
    Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: a review. Am J Gastroenterol. 2008;103:2136.PubMedCrossRefGoogle Scholar
  3. 3.
    Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature. 1992;357:605.PubMedCrossRefGoogle Scholar
  4. 4.
    Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294:1316.PubMedCrossRefGoogle Scholar
  5. 5.
    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.PubMedCrossRefGoogle Scholar
  6. 6.
    Teckman JH, Qu D, Perlmutter DH. Molecular pathogenesis of liver disease in alpha1-antitrypsin deficiency. Hepatology. 1996;24:1504.PubMedGoogle Scholar
  7. 7.
    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.PubMedCrossRefGoogle Scholar
  8. 8.
    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.PubMedCrossRefGoogle Scholar
  9. 9.
    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.PubMedCrossRefGoogle Scholar
  10. 10.
    Kemmer N, Kaiser T, Zacharias V, Neff GW. Alpha-1-antitrypsin deficiency: outcomes after liver transplantation. Transplant Proc. 2008;40:1492.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Patricio Arias
    • 1
  • John Kerner
    • 1
  • Megan Christofferson
    • 1
  • William Berquist
    • 1
  • K. T. Park
    • 1
  1. 1.Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Lucile Packard Children’s HospitalStanford University Medical CenterPalo AltoUSA

Personalised recommendations