Modifier genes in cystic fibrosis-related liver disease
Purpose of review Cystic fibrosis (CF; OMIM 219700) is caused by variations in the cystic fibrosis transmembrane conductance regulator gene. CF-related liver disease (CFLD) affects approximately one-third of patients with CF, but the severity of CFLD is highly variable. This review provides the latest knowledge in the pathophysiology and CF genetic modifier research in CFLD. Recent findings So far, the only modifier gene validated in CFLD is SERPINA1 (α-1-antitrypsin) Z allele. Recent studies support the view that cholangiopathy arising in CF is the result of an ill-adapted innate immune response to endotoxins coming from the intestine and triggering a pro-inflammatory response. Summary The pathophysiology of liver disease remains uncertain and so far, no therapy has proven effective to prevent the progression of CFLD. A better understanding of the pathophysiology and the effect of environmental and non-cystic fibrosis transmembrane conductance regulator genetic influences in the context of CFLD development would help improve management and develop new drug therapies.
Conclusions: Liver US patterns in children with CF correlate with platelet count, spleen size and indices of liver fibrosis. Multivariable models of these biomarkers have excellent discriminating ability for NL versus NOD, and good ability to distinguish other US patterns, suggesting that US patterns correlate with clinically relevant liver disease.
This study investigated the potential of Supersonic shear-wave elastography (SSWE) to non-invasively detect CFLD and assess hepatic fibrosis severity in children with CF.
Nature Reviews Gastroenterology &Hepatology, Published online: 05 June 2019; doi:10.1038/s41575-019-0156-4New knowledge has been steadily acquired in genetic and congenital cholangiopathies. Here, the authors discuss Alagille syndrome, polycystic liver diseases, fibropolycystic liver diseases and cystic fibrosis-related liver disease and the insights that these conditions provide into the mechanisms of acquired cholangiopathies.
Smith Etareri Evivie1,2†, Amro Abdelazez1,3, Bailiang Li1†, Xin Bian4, Wan Li1, Jincheng Du1, Guicheng Huo1* and Fei Liu1 1Key Laboratory of Dairy Science, Ministry of Education, College of Food Sciences, Northeast Agricultural University, Harbin, China 2Food Science and Nutrition Unit, Department of Animal Science, Faculty of Agriculture, University of Benin, Benin City, Nigeria 3Department of Dairy Microbiology, Animal Production Research Institute, Agriculture Research Center, Giza, Egypt 4Department of Food Engineering, Harbin University of Commerce, Harbin, China Foodborne pathogens are a ma...