Overview of Congenital Hepatic Fibrosis in Pediatrics: A Review

Congenital hepatic fibrosis is a rare developmental illness caused by a ductal plate malformation, often known as ciliopathy or fibrocystic liver disease. Hepatosplenomegaly and portal hypertension are two symptoms. The disease affects 1/10000–20000 people. frequently associated with a variety of illnesses caused by genetic abnormalities, such as autosomal recessive polycystic kidney disease (ARPKD) and Caroli syndrome. There hasn't been a way to stop or reverse the progression of congenital hepatic fibrosis until now. Clinical trials of anti-fibrotic medicines such as colchicine, interferon gamma, angiotensin II receptor blockers, pirfenidone, and ursodeoxycholic acid found no significant benefit. The only known cure for CHF is liver transplantation, which is recommended when the condition has progressed to the point when symptoms of liver failure have appeared. In this article we will be making overview of the disease. It’s symptoms and diagnosis, different treatment method, and we will compare some of the articles published about the disease.

Congenital Hepatic Fibrosis as a Cause of Recurrent Cholangitis: A Case Report and Review of the Literature

Rare liver diseases caused by ductal plate malformation, such as congenital hepatic fibrosis (CHF), Caroli syndrome, and polycystic liver disease, can have clinical manifestations such as recurrent cholangitis—frequently involving multidrug-resistant microorganisms—leading to difficulties in selecting the optimal antimicrobial treatment. Without prompt recognition, these infections severely hamper the patient’s quality of life and can develop into life-threatening complications. We report here the case of a 50-year-old woman with a history of recurring cholangitis with occasional systemic involvement leading to bloodstream infection, who ultimately received a diagnosis of CHF and was put on chronic suppressive antibiotic therapy while on the waiting list for a liver transplant. We also reviewed the literature collecting cases of recurrent infections occurring in patients with ductal plate malformation.

Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fibropolycystic disease which we diagnosed in the explant liver. A 2-year-old boy was referred for liver transplantation with a diagnosis of biliary atresia (BA) and failed Kasai portoenterostomy (KPE). He had cirrhosis with portal hypertension along with synthetic failure indicated by coagulopathy and hypoalbuminemia. The child underwent liver transplant successfully. The explant liver had fibropolycystic disease confined to the perihilar liver and hilum. No pathogenic mutation was detected by whole exome sequencing. Fibropolycystic liver disease may represent a peculiar anatomical variant, which can be diagnosed by careful pathological examination of the explant liver. The neonatal presentation of hilar fibropolycystic liver disease can be misdiagnosed as BA.