Progressive familial intrahepatic cholestasis types 1, 2, and 3
Open Access
- 1 June 1998
- Vol. 42 (6), 766-767
- https://doi.org/10.1136/gut.42.6.766
Abstract
Another form of PFIC, PFIC type 2, is characterised by persistent neonatal cholestasis with histological features of neonatal hepatitis and later biliary cirrhosis. Serum bile acid concentrations and alkaline phosphatase activities are elevated and the serum γGT activity is normal. Strautnieks et al suggest that the gene defect for this disease is located in a locus at chromosome 2q24, the FIC2 locus.7 This disease probably also results from a defect of hepatobiliary bile salt transport. A recently cloned candidate protein for the canalicular bile salt transporter belongs to the P-glycoprotein family and is called “the sister of P-glycoprotein”. Interestingly this protein is encoded by a gene on chromosome 2q24.Keywords
This publication has 13 references indexed in Scilit:
- A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasisNature Genetics, 1998
- Hepatic secretion of phospholipid vesicles in the mouse critically depends on mdr2 or MDR3 P-glycoprotein expression. Visualization by electron microscopy.JCI Insight, 1997
- Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24American Journal of Human Genetics, 1997
- Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64Human Genetics, 1997
- Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneityHepatology, 1997
- Locus heterogeneity in progressive familial intrahepatic cholestasis.Journal of Medical Genetics, 1996
- Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasisHepatology, 1996
- Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis regionHuman Molecular Genetics, 1995
- Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasisNature Genetics, 1994
- Homozygous disruption of the murine MDR2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver diseaseCell, 1993