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Pediatr Dev Pathol. 2016 Feb 8. [Epub ahead of print]

A CHALLENGING CASE OF SEVERE INFANTILE CHOLESTASIS IN ALPHA-1 ANTITRYPSIN DEFICIENCY.

Author information

1
1 Children's Hospital of Pittsburgh of UPMC Gastroenterology.
2
2 Children's Hospital of Pittsburgh of UPMC Gastroenterology.
3
3 Children's Hospital of Pittsburgh of UPMC Pediatric Transplant Surgery.
4
4 University of Pittsburgh School of Medicine Cell Biology.
5
5 Children's Hospital of Pittsburgh Pathology.

Abstract

Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. A1AT deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of A1AT deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place.

PMID:
26855337
DOI:
10.2350/15-09-1711-CR.1

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