Congenital hepatic fibrosis

Telomere biology disorder (TBD) can present within a wide spectrum of symptoms ranging from severe congenital malformations to isolated organ dysfunction in adulthood. Diagnosing TBD can be challenging given the substantial variation in symptoms and age of onset across generations. In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure...

We present a case of nephronophthisis 13 that resulted from WDR19 variants. The patient, a nine-year-old Japanese boy, had detection of mild proteinuria during a school urine screening. Urinalysis revealed mild proteinuria without hematuria. Blood tests indicated pancytopenia, mild elevation of liver enzymes, and kidney dysfunction. Ultrasound examination disclosed hepatosplenomegaly. Abdominal computed tomography and bone marrow assessments ruled out malignant tumors. Subsequent kidney and liver biopsies suggested nephronophthisis and congenital hepatic fibrosis...

Fontan-associated liver disease (FALD) is a chronic complication of the Fontan procedure, a palliative surgery for patients with congenital heart disease that results in a single-ventricle circulation. The success of the Fontan procedure has led to a growing population of post-Fontan patients living well into adulthood. For this population, FALD is a major cause of morbidity and mortality. It encompasses a spectrum of hepatic abnormalities, ranging from mild fibrosis to cirrhosis and hepatocellular carcinoma...

The patient was a male infant, born full-term, admitted to the hospital at 28 days of age due to jaundice for 20 days and abdominal distension for 15 days. The patient developed symptoms of jaundice, hepatosplenomegaly, massive ascites, and progressively worsening liver function leading to liver failure, severe coagulation disorders, and thrombocytopenia one week after birth. Various treatments were administered, including anti-infection therapy, fluid restriction, use of diuretics, use of hepatoprotective and choleretic agents, intermittent paracentesis, blood exchange, and intravenous immunoglobulin, albumin, and plasma transfusions...

Caroli's syndrome is a congenital disease characterized by dilation of intrahepatic bile ducts and congenital hepatic fibrosis. It is a rare condition in clinical work. Typically, the diagnosis of this disease is confirmed through medical imaging. Here, we report a case of atypical Caroli's syndrome in a patient who presented with recurrent upper gastrointestinal tract bleeding. The patient underwent imaging examinations, liver biopsy and whole exome sequencing. The results of the imaging examination were non-specific...

Congenital hepatic fibrosis (CHF) is considered to be a rare autosomal recessive hereditary fibrocystic liver disease, mainly found in children. However, cases of adult CHF with autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 gene mutation are extremely rare. We report a 31-year-old female patient admitted for esophageal and gastric variceal bleeding. Physical examination revealed significant splenomegaly, biochemical tests showed a slight increase in liver enzymes, and a decrease in platelet count...

Cystic fibrosis (CF) is a multisystem disorder that occurs as a result of autosomal recessive congenital transmission of CF transmembrane conductance regulator (CFTR) gene mutation on chromosome 7. Because it is considered a disease of the Caucasian pediatric population or due to lack of awareness, it is rarely considered in developing countries like ours. This case report presents the first case of cystic fibrosis ever reported in Ethiopia and possibly East Africa, that of a 17-year-old female diagnosed with the disease following a CT scan of her abdomen and chest...

Synonymous with congenital non-obstructive saccular or fusiform intra-hepatic duct dilatation and congenital communicating cavernous ectasia of the intra-hepatic biliary tract, Caroli's syndrome (CS) is an extremely rare fibro-polycystic liver disorder characterized by ductal plate malformation and consequent peri-portal fibrosis due to segmental intra-hepatic duct dilatation. No more than 200 cases of the syndrome have been reported since 1958. CS may affect one or both lobes of the liver, but more commonly it affects the left hepatic lobe...

Objective: To investigate the clinical and pathological features of congenital hepatic fibrosis (CHF). Methods: The clinical and pathological findings of 20 patients diagnosed with CHF from 2017 to 2023 were retrospectively analyzed. Results: Among the 20 patients, 8 were males and 12 were females with a median age of 21.5 years. Mostly patients were admitted to the hospital with cirrhosis, portal hypertension and upper gastrointestinal bleeding. Pathological features were diffuse fibrosis in the portal area, formation of fibrous septa of varying width, segmentation of the liver parenchyma, with hyperplasia of small bile ducts...

Background Choledochal cyst is a congenital cystic dilatation of the biliary tree. Various aspects of pathophysiology are unclear, particularly with reference to intracholedochal cystic pressure (ICCP) and liver histopathology. This study aimed to determine the relationship among cystic volume, ICCP, and histopathological changes in the liver in patients with choledochal cysts. Methods This cross-sectional study was carried out among 21 patients diagnosed with choledochal cysts, who attended the Department of Pediatric Surgery at Bangabandhu Sheikh Mujib Medical University (BSMMU) from April 2021 to August 2022...

RATIONAL: The disease of Caroli is a rare congenital disorder, characterized by the dilated intrahepatic bile ducts, resulting from mutations in the PKHD1 gene. Caroli syndrome, characterized by dilated intrahepatic bile ducts with congenital hepatic fibrosis, is linked to autosomal recessive polycystic kidney disease. The clinical manifestations of Caroli disease are not typical, and Caroli disease is easy to be missed and misdiagnosed. Therefore, we reported this case in the hope of raising awareness of the disease among clinicians...

Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenital hepatic fibrosis or Caroli syndrome. ARPKD remains a clinical challenge in pediatrics, frequently requiring continuous and long-term multidisciplinary treatment. In this review, we aim to give an overview over clinical aspects of ARPKD and recent developments in our understanding of disease progression, risk patterns, and treatment of ARPKD...

INTRODUCTION: Patients with Fontan palliation are susceptible to congestive hepatopathy and Fontan-associated liver disease (FALD) because of hemodynamic changes. The staging of liver fibrosis involves various methods, including invasive biopsy. Transjugular liver biopsy (TJLB) offers a less invasive alternative, enhancing liver disease surveillance in routine cardiac catheterization. We detail the technical aspects, share initial outcomes, and discuss existing literature. METHODS/RESULTS: During routine follow-up cardiac catheterization indicated by hemodynamic or clinical alterations, four patients aged between 16 and 26 years with univentricular Fontan circulation and three patients with biventricular circulation underwent TJLB during routine surveillance catheterization...

BACKGROUND: Abernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF...

Combined liver-kidney transplantation (CLKT) is a surgical procedure that involves transplanting both liver and kidney organs. There are two types of CLKT: simultaneous liver-kidney transplantation (smLKT) and sequential LKT (sqLKT). CLKT accounts for a small percentage of liver transplantations (LTs), particularly in pediatric cases. Nevertheless, the procedure has demonstrated excellent outcomes, with high survival rates and lower rejection rates. The main indications for CLKT in pediatric patients differ somewhat from that in adults, in which end-stage kidney disease after LT is the major indication...

BACKGROUND: Fontan-associated liver disease (FALD) is characterized by hepatic congestion and progressive hepatic fibrosis in patients with the Fontan operation. This condition is generally clinically silent until late, necessitating techniques for early detection. Liver T1 mapping has been used to screen for FALD, but without consideration of regional variations in T1 values. METHODS: Liver T1 measured with a liver-specific T1 mapping sequence (PROFIT1) in Fontan patients was compared with cohorts of patients with biventricular congenital heart disease (BiV-CHD) and controls with normal cardiac function and anatomy...

BACKGROUND: COACH syndrome is a rare autosomal recessive genetic disease characterized by liver fibrosis, which leads to severe complications related to portal hypertension. However, only a few patients with COACH syndrome undergoing liver transplantation (LT) have been reported. MATERIALS AND METHODS: We herein report the outcomes of four children who underwent LT for COACH syndrome at our institute and review three previously reported cases to elucidate the role of LT in COACH syndrome...

Congenital hepatic fibrosis is a rare, autosomal recessive, fibro-polycystic disease resulting from ductal plate malformation, leading to proliferation and fibrosis of bile ducts. Progressive hepatic fibrosis leads to portal hypertension and varices which can present with life threatening gastrointestinal hemorrhage. We report a case of congenital hepatic fibrosis in a 2-year-old child who presented with 8 days of fever without any significant medical history or physical examination findings.

OBJECTIVE: Autosomal dominant polycystic kidney disease is an inherited kidney disorder with mutations in polycystin-1 or polycystin-2. Autosomal recessive polycystic kidney disease is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. Mutations at PKHD1 are responsible for all typical forms of autosomal recessive polycystic kidney disease. METHODS: We evaluated the children diagnosed with polycystic kidney disease between October 2020 and May 2022...

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...