Intractable pruritus secondary to bile salts retention in Progressive Familial Intrahepatic Cholestasis (PFIC) can be relieved surgically by diverting bile drainage from ileum to reduce bile salts reabsorption into entero-hepatic circulation. We are reporting on the successful biliary diversion in a child with PFIC, with the use of the appendix as a conduit to drain bile from gallbladder to the...

The precipitation of excess biliary cholesterol as solid crystals is a prerequisite for cholesterol gallstone formation, which occurs due to disturbed biliary homeostasis. Biliary homeostasis is regulated by an elaborate network of genes in hepatocytes. If unmanaged, the cholesterol crystals will aggregate, fuse and form gallstones. We have previously observed that the levels of osteopontin (OP...

Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 6 ,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 0−8 to P = 0− 90). We used functional genomic approaches including metabonomic profiling and gene expression analyses to...

Objective: To report the mutational landscape of a clinically diagnosed cohort paediatric patients with cholestasis liver diseases. Method: The retrospective study was conducted at University Child Health Sciences, Children Hospital, Lahore, Pakistan, from December 10, 2021, to March 31, 2022, and comprised data collected Paediatric Gastroenterology Hepatology unit on demographics, clinical lab...

Background and Aim: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of liver disorders childhood which have hepatocellular origin. Largely, there are three distinct forms PFIC- 1,2 3 due increased access genetic studies, this list has expanded with newer mutations genes being discovered each day. Our study aims contribute the sparse existing literature varia...

Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic....

Background: Cholestatic disorders are divided in the extra and intra-hepatic that created due to the severe liver diseases. ABCB11 encodes the bile salt export pump and this gene is mutated in several forms of intrahepatic cholestasis. So far, some molecular features of this gene was studies.Objective: Using a developed web server, we identified high number of rare codons in this gene, and four...