Progressive Familial Intrahepatic Cholestasis Type 3

作者：Ramya Ramraj, Milton J. Finegold, Saul J. Karpen · 发表于：Clinical Pediatrics · 年份：2012 · DOI：10.1177/0009922812451076 · 被引用次数：39 · 研究领域：Trace Elements in Health、Drug Transport and Resistance Mechanisms、Pharmacological Effects and Toxicity Studies

PFIC3 (Progressive Familial Intrahepatic Cholestasis type 3) is an inherited cholestatic disorder caused by mutations in the ABCB4 gene encoding the Multidrug Resistance Protein 3 (MDR3) protein.1 PFIC3 typically presents during infancy or early childhood, often progressing to chronic liver disease and cirrhosis, requiring liver transplantation.2 Since the clinical features of PFIC3 overlap with many other forms of liver disease in childhood, definitive diagnosis may be problematic or delayed. Here we report two patients, ultimately diagnosed with PFIC3, who initially presented with liver histological features including marked hepatic copper accretion that were considered indicative of Wilson Disease (WD).