INTRODUCTION High prevalence of elevated serum pancreatic enzymes in children with cholestasis with normal fecal elastase-1 concentrations has been documented. However, this state is related predominantly to biliary atresia. Therefore, we aimed to assess pancreatic damage by measuring serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2 (PFIC type 2). ...

Hepatocellular carcinoma (HCC) is rare in children. Progressive familial intrahepatic cholestasis type II (PFIC2 and also called BSEP ((Bile Salt Export Pump)) deficiency) is an inherited disease that initiates end-stage liver cirrhosis which can predispose to HCC. HCC can occur in 15% of patients with PFIC2. In this case report, an 11-month-old boy with PFIC 2 was admitted for liver transplant...

RATIONALE Progressive familial intrahepatic cholestasis (PFIC) type 3, characterized by high gamma glutamyl transferase (GGT), is an autosomal recessive genetic disease. It often occurs in patients' first years of age. However, high GGT type PFIC is still rare. PATIENT CONCERNS The present study reports a case of liver transplantation for decompensated liver cirrhosis caused by PFIC type 3. A...

Progressive familial intrahepatic cholestasis, type 2 (PFIC2), characterized by cholestasis in infancy that may progress to cirrhosis, is caused by mutation in ABCB11, which encodes bile salt export pump (BSEP). We correlated histopathologic, immunohistochemical, and ultrastructural features in PFIC2 with specific mutations and clinical course. Twelve patients with clinical PFIC2 and ABCB11 mut...

Abstract Background The liver biopsy is an essential element of evaluating progression disease in children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Allagille Syndrome (AGS). Several noninvasive techniques, including radiological imaging blood biomarkers assay, can be used to evaluate stiffness. Objectives To identify whether Transient elastography (FibroScan) AST/PLT Ratio ...

Background and Aim: Despite the increasing application of whole exome or genome sequencing, there remains a subset patients with cholestatic liver disease for whom no identifiable genetic causes have been found. However, recent discovery has identified Kinesin-like protein KIF12 (KIF12) as potential candidate gene responsible specific form progressive familial intrahepatic cholestasis (PFIC), k...

Intrahepatic cholestasis of pregnancy is the most common pregnancy-related liver disease that occurs during pregnancy. It causes mortality and morbidity. In this review, intrahepatic (ICP) discussed with current literature.

BACKGROUND AND OBJECTIVE Rapidly establishing the cause of neonatal cholestasis is an urgent matter. The aim of this study was to report on the prevalence and mortality of the diverse disorders causing neonatal cholestasis in an academic center in Germany. METHODS Clinical chemistry and cause of disease were retrospectively analyzed in 82 infants (male n = 42, 51%) that had presented with neo...

Bile Salt Export Pump (BSEP) Deficiency disease, including Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2), is a rare disease, usually leading within the first ten years to portal hypertension, liver failure, hepatocellular carcinoma. Often liver transplantation is needed. Sodium 4-phenylbutyrate (4-PB) seems to be a potential therapeutic compound for PFIC2. Psychiatric side effect...

BACKGROUND All medical practitioners must be vigilant for child abuse and neglect (CAN) so that opportunities to intervene, prevent, and improve outcomes are not missed. However, child abuse is often overlooked in practice, and no sign or pattern of presentation of fractures is absolutely specific for child abuse. CASE REPORT Here, we present the case of a 22-month-old girl with progressive fam...