Therapies under investigation for Alagille syndrome would offer physicians the means to target defective areas in a more focused manner.
We explore the role of genomic sequencing in diagnosing Alagille syndrome and some of the dilemmas of genetic testing for this disease.
In rare cases of ALGS, patients also develop hepatocellular carcinoma (HCC), with only about 30 cases being reported in the literature.
Pediatric and adult ALGS patients may sporadically present benign hepatic nodules, also known as regenerative or regenerating nodules.
Researchers at the University of Pennsylvania highlight the improvements in disease modeling afforded by a molecular understanding of Alagille syndrome.