Among 56 pregnancies complicated by obstetric cholestasis five intrauterine deaths and one neonatal death occurred between 33 and 39 weeks, and a further six infants required urgent delivery for intrapartum asphyxia. Eighteen spontaneous premature deliveries occurred. Five mothers required specific treatment for unexplained postpartum haemorrhage. Cholestasis of pregnancy is therefore not a con...

In mid-December 2012, three extremely premature infants with cholestasis in a neonatal intensive care unit (NICU) developed dermatitis in the diaper region, perioral erosions, and bullae on the dorsal surfaces of their hands and feet (Figure). The infants were similar in gestational age (23-24 weeks) and corrected postnatal age (33-38 weeks). All had severe cholestasis (direct bilirubin >3 mg/d...

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...

OBJECTIVE Alpha1-antitrypsin deficiency (A1ATD) is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S al...

PURPOSE Infants with Alagille syndrome (AGS) are occasionally misdiagnosed as biliary atresia and subsequently undergo Kasai operation. The purpose of this study was to investigate the outcome of patients with AGS who had previously received Kasai operation during infancy. METHODS This retrospective study was conducted at the Department of Pediatrics, Samsung Medical Center. We compared the p...

INTRODUCTION The hemostatic system in newborn is a dynamic evolving process health-status dependent. OBJECTIVE To explore the changes in coagulation inhibitors and fibrinolytic system in newborn with neonatal cholestasis, according liver damage intensity. METHODS In a cross-sectional design, we studied fibrinolysis and coagulation inhibitor proteins, and serum ferritin (SF) in patients with...

INTRODUCTION McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune-Albright syndrome is caused by somatic postzygotic activating mutations in the GNAS gene that produce a broad spectrum of effects. CASE PRESENTATION We report a case of McCune-Albright syndrome with multi-organ ...

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, ...