A Challenging Case of Severe Infantile Cholestasis in Alpha-1 Antitrypsin Deficiency.
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. Alpha-1 antitrypsin 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 alpha-1 antitrypsin 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.
1 Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.|2 Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.|3 McGowan Institute for Regenerative Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Zahida
Z
Khan
1 Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
Veena L
VL
Venkat
4 Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
Kyle A
KA
Soltys
5 Center for Biologic Imaging, Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Donna B
DB
Stolz
2 Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Sarangarajan
S
Ranganathan
D002779:Cholestasis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
alpha-1 antitrypsin deficiency; cirrhosis; hyperbilirubinemia; liver transplantation; metabolic disease; neonatal cholestasis