Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2

Background and Aim:  Progressive familial intrahepatic cholestasis type 2 (PFIC2) results from genetic defects of the hepatobiliary bile salt export pump (BSEP, ABCB11) at chromosome 2q24. Patients with progressive cholestasis and liver cirrhosis usually need liver transplantation in the first decade. Mutations in ABCB11 are also associated with benign recurrent intrahepatic cholestasis type 2 and intrahepatic cholestasis of pregnancy in adult patients. We aimed to make the prenatal diagnosis of PFIC2.

[1]  M. Hadchouel,et al.  Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases , 2007, Journal of pediatric gastroenterology and nutrition.

[2]  D. Häussinger,et al.  Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. , 2006, Gastroenterology.

[3]  M. S. Yan,et al.  A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. , 2006, Journal of hepatology.

[4]  D. L. Le Couteur,et al.  Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters , 2005, Journal of gastroenterology and hepatology.

[5]  R. Houwen,et al.  Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. , 2004, Gastroenterology.

[6]  K. Setchell,et al.  Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. , 2003, Gastroenterology.

[7]  J. Boyer,et al.  The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. , 2002, The Journal of clinical investigation.

[8]  Y. Jeng,et al.  FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. , 2002, The Journal of pediatrics.

[9]  A. Sekine,et al.  Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population , 2002, Journal of Human Genetics.

[10]  P. Meier,et al.  Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver. , 2000, Gastroenterology.

[11]  Richard J. Thompson,et al.  Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. , 1999, Gastroenterology.

[12]  Richard J. Thompson,et al.  A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis , 1998, Nature Genetics.

[13]  N. Freimer,et al.  Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. , 1997, American journal of human genetics.

[14]  J. Deleuze,et al.  Defect of multidrug‐resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis , 1996, Hepatology.

[15]  N. Freimer,et al.  Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. , 1995, Human molecular genetics.

[16]  V. McKusick,et al.  Byler Disease: Fatal Familial Intrahepatic Cholestasis in an Amish Kindred , 1969 .

[17]  Rj. Clyton.  Byler's disease : Famiilial intrahpatic cholestasis in an Amish kindred , 1965 .