Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in PFIC type 3, the serum GGT activity is elevat...
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Wiley
2000-01-01
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| Series: | Canadian Journal of Gastroenterology |
| Online Access: | http://dx.doi.org/10.1155/2000/514172 |
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| author | Peter LM Jansen Michael Müller |
| author_facet | Peter LM Jansen Michael Müller |
| author_sort | Peter LM Jansen |
| collection | DOAJ |
| description | Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in PFIC type 3, the serum GGT activity is elevated. PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 and chromosome 2, respectively. The pathophysiology of PFIC type 1 is not well understood. PFIC types 2 and 3 are caused by transport defects in the liver affecting the hepatobiliary secretion of bile acids and phospholipids, respectively. Benign recurrent intrahepatic cholestasis (BRIC) is linked to a mutation in the same familial intrahepatic cholestasis 1 locus at chromosome 18. Defects of bile acid synthesis may be difficult to differentiate from these transport defects.Intrahepatic cholestasis of pregnancy (ICP) appears to be related to these cholestatic diseases. For example, heterozygosity in families with PFIC type 3 is associated with ICP, but ICP has also been reported in families with BRIC.In Dubin-Johnson syndrome there is no cholestasis; only the hepatobiliary transport of conjugated bilirubin is affected. This, therefore, is a mild disease, and patients have a normal lifespan. |
| format | Article |
| id | doaj-art-262e820838a440d8a06ead6f28d0a841 |
| institution | Kabale University |
| issn | 0835-7900 |
| language | English |
| publishDate | 2000-01-01 |
| publisher | Wiley |
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| series | Canadian Journal of Gastroenterology |
| spelling | doaj-art-262e820838a440d8a06ead6f28d0a8412025-02-03T05:46:58ZengWileyCanadian Journal of Gastroenterology0835-79002000-01-0114323323810.1155/2000/514172Genetic Cholestasis: Lessons from the Molecular Physiology of Bile FormationPeter LM Jansen0Michael Müller1Division of Hepatology and Gastroenterology, University Hospital Groningen, NetherlandsDivision of Hepatology and Gastroenterology, University Hospital Groningen, NetherlandsProgressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in PFIC type 3, the serum GGT activity is elevated. PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 and chromosome 2, respectively. The pathophysiology of PFIC type 1 is not well understood. PFIC types 2 and 3 are caused by transport defects in the liver affecting the hepatobiliary secretion of bile acids and phospholipids, respectively. Benign recurrent intrahepatic cholestasis (BRIC) is linked to a mutation in the same familial intrahepatic cholestasis 1 locus at chromosome 18. Defects of bile acid synthesis may be difficult to differentiate from these transport defects.Intrahepatic cholestasis of pregnancy (ICP) appears to be related to these cholestatic diseases. For example, heterozygosity in families with PFIC type 3 is associated with ICP, but ICP has also been reported in families with BRIC.In Dubin-Johnson syndrome there is no cholestasis; only the hepatobiliary transport of conjugated bilirubin is affected. This, therefore, is a mild disease, and patients have a normal lifespan.http://dx.doi.org/10.1155/2000/514172 |
| spellingShingle | Peter LM Jansen Michael Müller Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation Canadian Journal of Gastroenterology |
| title | Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation |
| title_full | Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation |
| title_fullStr | Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation |
| title_full_unstemmed | Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation |
| title_short | Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation |
| title_sort | genetic cholestasis lessons from the molecular physiology of bile formation |
| url | http://dx.doi.org/10.1155/2000/514172 |
| work_keys_str_mv | AT peterlmjansen geneticcholestasislessonsfromthemolecularphysiologyofbileformation AT michaelmuller geneticcholestasislessonsfromthemolecularphysiologyofbileformation |