Background and aims: Congenital hepatic fibrosis (CHF) is a rare disease associated with polycystic kidney gene mutation and is characterized by liver fibrosis and portal hypertension. The pathology of CHF has common characteristics with hepatitis B cirrhosis. Currently, little is known about the clinical course of CHF during pregnancy or its effect on maternal and fetal outcomes.
Methods: Whole exome sequencing (WES), and laboratory and histopathological findings of the patient were documented.
Results: We report the case of a 30-year-old Chinese woman who had been diagnosed with hepatitis B cirrhosis 17 years before and whose diagnosis was revised to CHF based on confirmation by liver biopsy and WES. She conceived naturally and delivered a healthy live infant.
Conclusions: The diagnostic methods for CHF are liver biopsy and WES. In pregnant patients with CHF, prenatal monitoring is mainly performed to monitor liver function, platelet and clotting function, portal hypertension and degree of esophageal and gastric varices. Precise guidelines for screening and management of patients with CHF need to be better defined.
Keywords: bile acids and salts; congenital; fibrosis; hepatic fibrosis; pregnant women.
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.