Progressive familial intrahepatic cholestasis

A Srivastava - Journal of clinical and experimental hepatology, 2014 - Elsevier
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are
caused by defect in bile secretion and present with intrahepatic cholestasis, usually in …

Structure and function of hepatobiliary ATP binding cassette transporters

T Kroll, M Prescher, SHJ Smits, L Schmitt - Chemical reviews, 2020 - ACS Publications
The liver is beyond any doubt the most important metabolic organ of the human body. This
function requires an intensive crosstalk within liver cellular structures, but also with other …

[HTML][HTML] Liver disease associated with canalicular transport defects: current and future therapies

JM Stapelbroek, KJ van Erpecum, LWJ Klomp… - Journal of …, 2010 - Elsevier
Bile formation at the canalicular membrane is a delicate process. This is illustrated by
inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and …

[PDF][PDF] Impact of genotype, serum bile acids, and surgical biliary diversion on native liver survival in FIC1 deficiency

DBE van Wessel, RJ Thompson, E Gonzales… - …, 2021 - Wiley Online Library
Background and Aims Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can
lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial …

[PDF][PDF] Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

SB Schatz, C Jüngst, V Keitel‐Anselmo… - Hepatology …, 2018 - Wiley Online Library
Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4
(ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to …

[HTML][HTML] Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies

S Alam, BB Lal - World Journal of Hepatology, 2022 - ncbi.nlm.nih.gov
Recent evidence points towards the role of genotype to understand the phenotype, predict
the natural course and long term outcome of patients with progressive familial intrahepatic …

[HTML][HTML] Liver transplantation and the management of progressive familial intrahepatic cholestasis in children

A Mehl, H Bohorquez, MS Serrano… - World Journal of …, 2016 - ncbi.nlm.nih.gov
Progressive familial intrahepatic cholestasis (PFIC) is a constellation of inherited disorders
that result in the impairment of bile flow through the liver that predominantly affects children …

Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis

R Kubitz, C Dröge, S Kluge, C Stross, N Walter… - Clinical reviews in …, 2015 - Springer
Severe cholestasis may result in end-stage liver disease with the need of liver
transplantation (LTX). In children, about 10% of LTX are necessary because of cholestatic …

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management

K Oishi, R Arnon, MP Wasserstein… - Pediatric …, 2016 - Wiley Online Library
LT is an effective therapeutic option for a variety of IEM. This approach can significantly
improve the quality of life of patients who suffer from severe disease manifestations and/or …

[PDF][PDF] Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation

A Miyagawa‐Hayashino, H Egawa… - Liver …, 2009 - Wiley Online Library
We studied histological features and long‐term outcomes in patients with progressive
familial intrahepatic cholestasis type 1 (PFIC1) after liver transplantation (LT). Histological …