Genetic cholestasis: lessons from the molecular physiology of bile formation
| Autor: | Michael Müller, Peter L.M. Jansen |
|---|---|
| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty INBORN-ERRORS MUTANT RATS Benign Recurrent Intrahepatic Cholestasis EXCRETORY DEFECT Cholestasis Intrahepatic P-glycoprotein Gastroenterology CONJUGATE EXPORT PUMP FAMILIAL INTRAHEPATIC CHOLESTASIS Dubin–Johnson syndrome Cholestasis Chromosome 18 Pregnancy Internal medicine medicine Bile Humans lcsh:RC799-869 ABCB11 business.industry Jaundice Chronic Idiopathic URSODEOXYCHOLIC ACID THERAPY ORAL-CONTRACEPTIVES Progressive familial intrahepatic cholestasis General Medicine gamma-Glutamyltransferase Jaundice medicine.disease MULTIDRUG-RESISTANCE PROTEIN Pregnancy Complications Endocrinology HEPATOCYTE CANALICULAR ISOFORM Mutation bile salt export pump lcsh:Diseases of the digestive system. Gastroenterology progressive familial intrahepatic cholestasis Female Dubin-Johnson syndrome medicine.symptom cholestasis business Cholestasis of pregnancy |
| Zdroj: | Canadian journal of gastroenterology = Journal canadien de gastroenterologie, 14(3), 233-238. Pulsus Group Inc. Canadian Journal of Gastroenterology, Vol 14, Iss 3, Pp 233-238 (2000) Canadian journal of gastroenterology, 14(3), 233-238 |
| ISSN: | 0835-7900 |
| DOI: | 10.1155/2000/514172 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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