Congenital hepatic fibrosis

BACKGROUND: CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication with biliary sepsis. Our case described a 23-year-old female diagnosed as CHF combined with biliary sepsis. Her blood culture was positive for KP (Klebsiella pneumoniae), and with a high level of CA19-9 (> 1200.00 U/ml, ref: <37...

INTRODUCTION AND OBJECTIVES: Congenital hepatic fibrosis (CHF) is a rare condition characterized by biliary tract changes and a geographic pattern of liver fibrosis. Liver biopsy is essential to confirm its diagnosis. The absence of specific clinical indicators in adults often leads to delays in diagnosis and management, while the natural history has not been well described. We sought to define the presentation and outcomes of adults with biopsy-proven CHF...

Fetal biliary lithiasis is a benign condition characterized by the presence of gallstones in the gallbladder of a developing fetus. It is typically detected incidentally during a routine obstetric echography. The incidence of this condition varies from 0.03% to 2.3%. In most cases, fetal cholelithiasis resolves spontaneously and has an excellent prognosis. However, there are certain risk factors that may contribute to its development. Maternal factors that increase the risk of fetal cholelithiasis include placental abruption, elevated estrogen levels, narcotic use, diabetes, enteral nutrition, and specific medications, such as ceftriaxone, furosemide, and prostaglandin E2...

BACKGROUND: Pancreaticobiliary maljunction (PBM) is a congenital defect, with risk of developing various pancreaticobiliary and hepatic complications. The presentations of PBM in children and adults are believed to be different, but studies on PBM children of different age groups are limited. This study was to evaluate clinicopathologic characteristics and outcomes in PBM children of different ages. METHODS: A total of 166 pediatric patients with PBM were reviewed retrospectively...

Background: The Fontan operation palliates single-ventricle congenital heart disease but causes hepatic congestion with associated progressive hepatic fibrosis. Objective: To evaluate associations between liver stiffness measured using ultrasound shear-wave elastography (SWE) in patients with Fontan palliation and occurrence of portal hypertension and Fontan circulatory failure during follow-up. Methods: This retrospective study included 119 individuals ≥10 years old (median age, 19.1 years; 61 female, 58 male) with Fontan circulation who underwent liver ultrasound with 2D SWE from January 1, 2015, to January 1, 2022 and had ≥1 year of clinical follow-up (unless experiencing earlier outcome-related events)...

No abstract text is available yet for this article.

Background Central venous pressure (CVP) is one of the most important hemodynamic parameters in patients with congenital heart disease (CHD). In adults, it is well-known that liver fibrosis markers reflect CVP, but this is not well-understood in children. We investigated the liver fibrosis markers in pediatric CHD patients and their ability to predict CVP. Methods We studied 160 patients who underwent cardiac catheterization in our hospital between January 2017 and December 2020. The levels of the fibrotic markers, including type IV collagen 7s, procollagen type III peptide, and hyaluronic acid, were measured...

INTRODUCTION: Chronic kidney disease (CKD) is emerging as a serious health problem in Odisha, India. A new form of severe CKD affecting adults, not due to traditional risk factors like diabetes, hypertension, glomerulonephritis, has been reported in Sri Lanka, Central America, and Egypt in the last two decades. This has been named CKD of unknown origin (CKDu), and it is fatal due to late recognition and rapid disease progression. The aim of the study was to elucidate the association between different sociodemographic, and biochemical parameters with renal morphology in CKD of unknown origin patients...

Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes, PDK1 and PDK2 .Patients with PKD1 experience renal failure at an earlier onset than those with PKD2. We report on a 2 year-old-boy with hepatosplenomegaly and signs of portal hypertension...

INTRODUCTION: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly...

UNLABELLED: Fontan-Associated Liver Disease (FALD) is a common extracardiac complication seen in patients following the Fontan procedure. There are no consensus guidelines on screening and management of children with FALD. OBJECTIVE: The current study aims to determine academic pediatric hepatologists' practices and identify variability in management provided to children with FALD in Canada. METHODS: Using the infrastructure of the Canadian Pediatric Hepatology Research Group, a nationwide survey was distributed electronically to all pediatric hepatologists practicing in university-affiliated hospitals...

We report the case of a 2-year-old girl who was diagnosed with Mannose-6-phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) and provide a review of the relevant literature. The young girl presented with recurrent unexplained diarrhea, vomiting, hypoproteinemia, and elevated liver transaminases. Whole-exome sequencing revealed that the patient had compound heterozygous mutations in the MPI gene (NM_0024). An exon 4 (c.455G > T, p.R152l) mutation was inherited from the mother and an exon 7 (c...

PURPOSE: Liver biopsy is still the standard method for the diagnosis of ductal plate malformations (DPM). However, it is an invasive tool. Magnetic resonance imaging (MRI) has shown its accuracy in the diagnosis of this pathology. Herein, a study was conducted to elucidate the role of diffusion MRI parameters in predicting the degree of hepatic fibrosis. MATERIAL AND METHODS: This prospective study included 29 patients with DPM and 20 healthy controls. Both groups underwent diffusion tensor magnetic resonance imaging (DT-MRI), and its parameters were compared between patients and controls, and then they were correlated with the degree of liver fibrosis in the patient group...

BACKGROUND & AIMS: An international panel proposed a diagnostic framework for metabolic-associated fatty liver disease (MAFLD) in children. The aim was to compare the clinical features of MAFLD and nonalcoholic fatty liver disease (NAFLD) in children. METHODS: The characteristic differences between NAFLD and MAFLD in children were compared with the National Health and Nutrition Examination Survey (NHANES) 2017-2018 in the U.S. and the Comprehensive Prevention Project for Overweight and Obese Adolescents (CPOOA) study in China...

UNLABELLED: Caroli disease is a rare congenital pathology caused by mutation of the PKHD1 gene (polycystic kidney and hepatic disease 1), also responsible for autosomal recessive polycystic kidney disease. Characterized by segmental and multifocal dilatation of the large intrahepatic bile ducts, classic disease involves only malformation of the biliary tract. The association with congenital hepatic fibrosis is called Caroli syndrome. We describe the case of an 84-year-old man with Caroli syndrome diagnosed in 1997 by liver biopsy...

Phosphomannomutase-2-congenital disorder of glycosylation (PMM2-CDG) is the most common CDG and presents with highly variable features ranging from isolated neurologic involvement to severe multi-organ dysfunction. Liver abnormalities occur in in almost all patients and frequently include hepatomegaly and elevated aminotransferases, although only a minority of patients develop progressive hepatic fibrosis and liver failure. No curative therapies are currently available for PMM2-CDG, although investigation into several novel therapies is ongoing...

Objective: We reviewed our experience with transvenous liver biopsy-derived hepatic fibrosis scores and possible associated risk factors in those postextracardiac Fontan patients. Methods: We identified extracardiac-Fontan patients with postoperative durations <20 years who underwent cardiac catheterizations with transvenous hepatic biopsies between April 2012 and July 2022. If a patient underwent two liver biopsies, we averaged the two total fibrosis scores and concurrent time, pressure, and oxygen saturation data...

OBJECTIVE: Infants receiving parenteral nutrition (PN) are at increased risk of PN associated liver disease (PNALD), which can lead to hepatic fibrosis. While congenital heart disease (CHD) represents a risk factor for hepatic fibrosis, this study sought to better understand if infants with CHD were at elevated risk of PNALD when receiving long-term PN. STUDY DESIGN: A retrospective cohort of infants at a Level IV NICU from 2010 to 2020 who received long-term PN during the first 8 weeks of life...

Congenital hepatic fibrosis / Autosomal recessive polycystic kidney disease (CHF/ARPKD) is an inherited neonatal disease induced by mutations in the PKHD1 gene and characterized by cysts, and robust pericystic fibrosis in liver and kidney. The PCK rat is an excellent animal model which carries a Pkhd1 mutation and exhibits similar pathophysiology. We performed RNA-Seq analysis on liver samples from PCK rats over a time course of postnatal day (PND) 15, 20, 30, and 90 using age-matched Sprague-Dawley (SD) rats as controls to characterize molecular mechanisms of CHF/ARPKD pathogenesis...

BACKGROUND AND AIMS: Biliary atresia (BA), a congenital cholestatic liver disease, commonly culminates in end-stage liver disease. We previously demonstrated in BA that Prominin-1 ( Prom1 )-expressing hepatic progenitor cells (HPCs) expand within regions of developing fibrosis, giving rise to cholangiocytes within biliary ductular reactions. Null mutation of Prom1 or ablation of cells expressing Prom1 significantly diminishes fibrogenesis. FN14, the receptor for TNF-like weak inducer of apoptosis (TWEAK), is expressed by HPCs...