Inherited syndromes of intrahepatic cholestasis and biliary atresia are the most common causes of chronic liver disease and the prime indication for liver transplantation in children. Our understanding of the pathogenesis of these diseases has increased substantially by the discovery of genetic mutations in children with intrahepatic cholestasis and the findings that inflammatory circuits are o...

INTRODUCTION Facilitation of biliary salts secretion represents the mainstay of treatment for progressive familial intrahepatic cholestasis (PFIC). The purpose of this study was to introduce a new approach for the treatment of progressive familial intrahepatic cholestasis (PFIC) to avoid ostoma. CASE PRESENTATION An 11-year-old girl with the diagnosis of PFIC underwent cholecystoappendicostom...

Common skin conditions during pregnancy generally can be separated into three categories: hormone-related, preexisting, and pregnancy-specific. Normal hormone changes during pregnancy may cause benign skin conditions including striae gravidarum (stretch marks); hyperpigmentation (e.g., melasma); and hair, nail, and vascular changes. Preexisting skin conditions (e.g., atopic dermatitis, psoriasi...

BACKGROUND The authors have previously described an association between cytomegalovirus (CMV) infection and intrahepatic and extrahepatic forms of neonatal cholestasis. Pediatric use of the antiviral drug ganciclovir to treat patients with CMV infection has increased. In this study, infants with CMV infection and cholestasis were treated with ganciclovir. METHODS Six infants with cholestasis ...

Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21. Haplotype analysis narrowed the candidate region for both diseases to the same interval...

BACKGROUND Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholesta...

Down syndrome is a rare cause of neonatal cholestasis. Neonatal cholestasis in a patient with Down syndrome is usually associated with severe liver diseases, such as neonatal hemochromatosis, myeloproliferative disorder and intrahepatic bile duct paucity. We experienced a case of idiopathic neonatal cholestasis in a patient with Down syndrome, which resolved spontaneously. (Pediatr Gastroentero...