Published online Feb 28, 2015. doi: 10.3748/wjg.v21.i8.2550
Peer-review started: July 8, 2014
First decision: August 6, 2014
Revised: August 28, 2014
Accepted: December 1, 2014
Article in press: December 1, 2014
Published online: February 28, 2015
Core tip: Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (renal cysts and diabetes; HNF1B-maturity-onset diabetes of the young), but little is known on liver in these patients. We succeeded to detect the most severe hepatic phenotype of an HNF1B gene deletion in a female neonate with cholestasis due to biliary atresia. She required portoenterostomy when 32-d old. She had bilateral renal cysts and pancreatic hypoplasia. A review of 12 published cases allows distinguishing three severity levels of liver impairment in HNF1B defects, ranging from neonatal cholestasis through adult-onset cholestasis to non-cholestatic liver disease. All have renal cysts and later-onset diabetes.