|Title:||Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2||Authors:||Chen S.-T.
|Issue Date:||2008||Publisher:||Blackwell Publishing||Journal Volume:||23||Journal Issue:||9||Start page/Pages:||1390-1393||Source:||Journal of Gastroenterology and Hepatology (Australia)||Abstract:||
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. Methods: Genetic diagnosis was performed by genomic DNA analysis. Prenatal genetic diagnosis was made by fetal amniotic DNA and chorionic DNA analysis. Results: We report on two families of PFIC2 with inherited compound heterozygous mutations of ABCB11 (M183V and R303K in Family 1, V284L and 1145delC in Family 2) from the parents. An infant with heterozygous M183V mutation was later born healthy in Family 1. A fetus with compound heterozygous missense mutation V284L and 1145delC was terminated in Family 2. Conclusion: Prenatal diagnosis of PFIC2 was helpful to prevent further affected children in families with this fatal disease. ? 2008 The Authors.
|ISSN:||0815-9319||DOI:||10.1111/j.1440-1746.2008.05432.x||metadata.dc.subject.other:||carrier protein; genomic DNA; protein ABCB11; amnion; article; case report; chromosome 2q; DNA determination; familial disease; female; fetus; heterozygote; human; human tissue; infant; intrahepatic cholestasis; liver cirrhosis; liver transplantation; male; missense mutation; pregnancy termination; prenatal diagnosis; priority journal; progressive familial intrahepatic cholestasis 2
|Appears in Collections:||醫學教育暨生醫倫理學科所|
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