ArticlePediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
A Challenging Case of Severe Infantile Cholestasis in Alpha-1 Antitrypsin Deficiency.
Article in Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Case Report: Early recognition of neonatal alpha-1 antitrypsin deficiency: a case of subtle presentation and prompt diagnosis.Frontiers in pediatrics · 2026Article
- Emodin Attenuates Lipopolysaccharide-Induced Acute Liver Injury via Inhibiting the TLR4 Signaling PathwayFrontiers in pharmacology · 2018Article
- Bile Duct Ligation Induces ATZ Globule Clearance in a Mouse Model of α-1 Antitrypsin Deficiency.Gene expression · 2017Article
- Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Approaches and Future Directions.Current pathobiology reports · 2017Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
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. 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.
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