What is it about?
Gallbladder gallstones, intrahepatic cholestasis of pregnancy (elevated bile acid during pregnancy), low phospholipid-associated cholelithiasis syndrome are common causes of rare adult cholestatic liver diseases of genetic origin due to ABCB4 gene mutations.
Featured Image
Photo by Lucas Vasques on Unsplash
Why is it important?
Our report shows four novel pathogenic ABCB4 gene mutations as well as expands the mutational spectrum of ABCB4 mutations in adult cholestatic liver disease. Molecular analysis should be performed in patients with cholestatic liver diseases of unknown origin after exclusion of other main causes of cholestasis.
Perspectives
I just want to report a rare group of inherited liver diseases which could be under-diagnosed in routine. It is also my great pleasure to add the ABCB4 gene mutations to the medical literature. In the future, it might be interesting that the functional study of these four novel variants could be carried out in order to understand the underlying mechanisms of genetic liver disease. Moreover, this report highlights the important role of molecular analysis of the ABCB4 gene as well as helps gastroenterologists in the routine clinical diagnosis setting of rare adult cholestatic liver diseases.
Dr Minh-Tuan HUYNH
Universite de Nantes
Read the Original
This page is a summary of: Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants: case reports, Revista Española de Enfermedades Digestivas, January 2018, Sociedad Espanola de Patologia Digestiva (SEPD),
DOI: 10.17235/reed.2018.5828/2018.
You can read the full text:
Resources
Contributors
The following have contributed to this page
