Class III multidrug resistance P-glycoproteins, mdr2 in mice and MDR3 in human, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion.The role of a MDR3 (ABCB4) gene defect in liver disease has been initially proven in a subtype of progressive familial intrahepatic cholestasis called PFIC3, a severe pediatric liver disease that may require l...

The specific dermatoses of pregnancy represent a heterogeneous group of pruritic skin diseases that have been recently reclassified and include pemphigoid (herpes) gestationis, polymorphic eruption of pregnancy (syn. pruritic urticarial papules and plaques of pregnancy), intrahepatic cholestasis of pregnancy, and atopic eruption of pregnancy. They are associated with severe pruritus that should...

Severe intrahepatic cholestasis occurred in a patient after taking nitrofurantoin, ampicillin, and cloxacillin. As only nitrofurantoin was known to cause cholestasis she was given cloxacillin again two years later. The cholestasis reappeared at once. A macrophage inhibition factor test confirmed that cloxacillin was the offending drug. Cloxacillin should be added to the growing list of drugs ca...

Intrahepatic cholestasis of pregnancy is seldom associated with significant vitamin K deficiency. We report a case of a 16-year-old primigravid patient at 24 weeks and 3 days of gestation who presented with pruritus, hematuria, and preterm labor. Laboratory work-up showed severe coagulopathy with Prothrombin Time (PT) of 117.8 seconds, International Normalized Ratio (INR) of 10.34, and elevated...

Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three distinct forms are described: FIC1 and FIC2, associated with low/normal GGT level in serum, which are caused by impaired bile salt secretion due to defects in ATP8B1 encoding the FIC1 protein and...

Lipoprotein-X (Lp-X) is an abnormal low-density lipoprotein frequently found in liver disease. It is regarded as the most sensitive and specific biochemical parameter for the diagnosis of intra- and extrahepatic cholestasis. Moreover, Lp-X is supposed to contribute to the development of hypercholesterolemia in cholestatic liver disease, because it fails to inhibit de novo cholesterol synthesis....

heterogeneity in intrahepatic cholestasis of pregnancy. Gut 2003;52:1025–9. 24 Mullenbach R, Bennett A, Tetlow N, Patel N et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005;54:829–34. 25 Ch’ng CL, Morgan M, Kingham JG. Obstetric cholestasis in South Wales. Gut 2002;50(Suppl II):A114. 26 Williamson C, Hems LM, Goulis DG, Walker I et al. Clinical outcome...

Progressive familial intrahepatic cholestasis (PFIC) occurs in many communities and races. A form of PFIC in five children from two consanguineous marriages in an Irish kindred is described. In addition, a review of clinical information from the records of three deceased members of the kindred strongly implies that they also suffered from PFIC. The children had a history of neonatal diarrhoea, ...