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What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.
Curr Opin Pediatr
October 2024
Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Purpose Of Review: To highlight recent advances in pediatric cholestatic liver disease, including promising novel prognostic markers and new therapies.
Findings: Additional genetic variants associated with the progressive familial intrahepatic cholestasis (PFIC) phenotype and new genetic cholangiopathies, with an emerging role of ciliopathy genes, are increasingly being identified. Genotype severity predicts outcomes in bile salt export pump (BSEP) deficiency, and post-biliary diversion serum bile acid levels significantly affect native liver survival in BSEP and progressive familial intrahepatic cholestasis type 1 (FIC1 deficiency) patients.
Case Report: A Rare Heterozygous Mutation in a BRIC1 Patient: Haploinsufficiency?
Front Med (Lausanne)
June 2022
Department of Gastroenterology, First Affiliated Hospital of China Medical University, Shenyang, China.
Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by recurrent cholestasis. ATPase class I, type 8B, member 1 () encodes familial intrahepatic cholestasis 1 (FIC1), which acts as a phosphatidylserine reversing enzyme in the tubule membrane of hepatocytes to mediate the inward translocation of phosphatidylserine (PS). At present, dozens of pathogenic mutations have been identified that mainly cause BRIC1 and progressive familial intrahepatic cholestasis 1 (PFIC1).
View Article and Find Full Text PDFProgressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India.
J Clin Exp Hepatol
June 2021
Department of Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, India.
Background/aims: This study aimed to delineate the clinical profile of children diagnosed with progressive familial intrahepatic cholestasis (PFIC).
Methods: This study was a retrospective analysis of case records of children in the tertiary care hospital, with the diagnosis of PFIC from January 2017 to January 2020. The diagnosis was made using clinical and laboratory parameters and with genetic testing when available.
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Gastroenterol Hepatol
October 2022
Department of Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, Barcelona, Spain.
Introduction: Heterozygous defects in genes implicated in Progressive Familial Intrahepatic Cholestasis have been described in milder forms of cholestatic diseases. Our aim is to describe clinical, laboratory and imaging characteristics as well as treatment and outcome of a cohort of pediatric patients with heterozygous mutations in ATP8B1, ABCB11 or ABCB4.
Patients And Methods: We present a retrospective descriptive study including pediatric patients with at least one heterozygosis defect in ATP8B1, ABCB11 or ABCB4 diagnosed after a cholestatic episode.
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