Abstract:
:Cholestatic syndromes are inborn or acquired disorders of bile formation. In recent years, several inherited cholestatic syndromes were characterized at the molecular level: progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC). Both PFIC and BRIC were divided phenotypically in distinct subtypes; however, at the genotype level, these clinical entities overlap. PFIC starts in early childhood and progresses toward liver cirrhosis, which often requires liver transplantation within the first decade of life. The diagnosis of PFIC is usually made on the basis of clinical and laboratory findings but needs to be confirmed by genetic and histological analysis. Only recently was it recognized that BRIC, which was estimated as a milder form of PFIC-1, may be caused by more than one gene.
journal_name
Methods Enzymoljournal_title
Methods in enzymologyauthors
Kubitz R,Keitel V,Häussinger Ddoi
10.1016/S0076-6879(05)00031-5subject
Has Abstractpub_date
2005-01-01 00:00:00pages
558-69eissn
0076-6879issn
1557-7988pii
S0076-6879(05)00031-5journal_volume
400pub_type
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