A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts
| Autor: | David L Zwick, Michael Lee, Veena Rajaram, Natasha Varughese, Patricia M. Jones, Charina M Ramirez, Kara L Chan |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Genetic Markers Pathology medicine.medical_specialty Heterozygote Mutation Missense 030105 genetics & heredity Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Dubin–Johnson syndrome medicine Missense mutation Humans Neonatal cholestasis medicine.diagnostic_test Bile duct business.industry Jaundice Chronic Idiopathic Multidrug resistance-associated protein 2 Infant Newborn General Medicine Jaundice medicine.disease Multidrug Resistance-Associated Protein 2 Interlobular bile ducts Alagille Syndrome medicine.anatomical_structure Liver biopsy Pediatrics Perinatology and Child Health 030211 gastroenterology & hepatology Female medicine.symptom Multidrug Resistance-Associated Proteins business Biomarkers |
| Zdroj: | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 24(2) |
| ISSN: | 1615-5742 |
| Popis: | Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder that typically manifests in young adulthood as jaundice with conjugated hyperbilirubinemia. We report a case presenting as neonatal cholestasis with the unexpected histologic finding of paucity of interlobular bile ducts, a feature that is not typically seen in DJS. The diagnosis was confirmed by absent canalicular multidrug-resistance-associated protein 2 (MRP2) immunohistochemical staining on liver biopsy tissue and molecular genetic testing that demonstrated heterozygous mutations in the ATP-Binding Cassette Subfamily C Member 2 ( ABCC2) gene, including a novel missense mutation. This report describes a case of DJS with atypical clinicopathologic findings and suggests that DJS should be considered in patients with neonatal cholestasis and bile duct paucity. |
| Databáze: | OpenAIRE |
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