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 (a case report)

Congenital hepatic fibrosis (CHF) is an autosomal recessive disorder of intrauterine morphogenesis of the portobiliary system, characterized by periportal fibrosis and defective remodeling of the bile ducts. The article describes the features of the clinical course, diagnosis and treatment of type I CHF in the different terms of a patient’s life: from birth to her pregnancy, during pregnancy and after childbirth. The aim of this work is to familiarize specialists with the problem of diagnosis and treatment of type I CHF in a patient with a provisional misdiagnosis of cryptogenic liver cirrhosis. Results. The features of type I CHF that determine a wider diagnostic testing in long-term unspecified liver pathology cases were identified. First-time decompensation of portal hypertension (PH) occurred at 35 weeks of gestation with the development of ascitic-edematous syndrome, hypersplenism, preeclampsia without signs of hepatic encephalopathy (HE). Cesarean section was performed at 37 weeks’ gestation and healthy baby was born. One year and 9 months after delivery, hypersplenism compensation was achieved by performing splenic artery embolization (SAE). There were no clinical manifestations of HE throughout the follow-up period. Conclusions. The diagnostic algorithm for a long-term compensated unspecified liver pathology with PH should confirm or rule out CHF. Type I CHF patients can give birth to a healthy child. SAE successfully compensates for hypersplenism and PH in type I CHF. Transient elastography is an effective method for the assessment of liver fibrosis progression in patients with type I CHF.

Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution

Background Congenital hepatic fibrosis (CHF) is a rare inherited form of ductal plate malformation associated with polycystic kidney disease. The diagnosis requires histopathologic confirmation, but can be challenging to distinguish from other undefined fibrocystic liver diseases. We aimed to describe the clinicopathologic features of congenital hepatic fibrosis (CHF), with comparisons to other entities that may clinically and/or histologically mimic CHF. Methods Nineteen cases that carried a clinical and/or histologic impression of CHF were identified at our institution, of which the histology was reassessed and reappraised into two categories: CHF (n=13) and mimics (n=6). The clinicopathologic features between the two groups were analyzed and compared. Results The CHF group was further sub-classified into those with clinical suspicion (CHF-c, n=8) and those as incidental histology findings (CHF-i, n=5). Patients of CHF-i were much older than CHF-c or mimics (P<0.05). Male and female were equally affected. Six of 8 CHF-c (66.7%) had concurrent kidney diseases, including 5 polycystic kidney diseases. Five of 6 mimics (83.3%) had various kidney diseases, including nephronophthisis, Alport syndrome, renal agenesis, and nephrolithiasis. None of the CHF-i patients had kidney disease, but 3 were associated with hepatic carcinomas. Histology analysis demonstrated characteristic triads (bile duct abnormalities, portal vein hypoplasia, and fibrosis) in all CHF cases. One mimic had paucity of intrahepatic bile ducts, while the other 5 mimics showed abnormal portal veins and nodular regenerative hyperplasia consistent with hepatoportal sclerosis (HPS). Conclusions Our study demonstrates classic histology triad of CHF despite a wide spectrum of clinical presentations. HPS is unexpectedly a clinical mimicker of CHF, which can be distinguished histologically.

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.

Congenital hepatic fibrosis with novel mutations in PKD1 gene masquerading as early cryptogenic cirrhosis: a rare case report

Background Congenital hepatic fibrosis (CHF) is a rare disorder of the porto-biliary system occurring due to the defective remodeling of ductal architecture leading to progressive fibrosis of the portal tract. Though classically, CHF has been reported to be associated with autosomal recessive polycystic kidney disease (ARPKD), there have been only a few reports associating CHF with autosomal dominant polycystic kidney disease (ADPKD). Also, there is a lack of proper sequencing panels and gene database covering CHF-related genes in the medical literature. CHF often presents with features of portal hypertension without overt signs or symptoms of liver disease. However, often due to lack of awareness among radiologists and physicians, such cases might get labeled as early stage of cryptogenic cirrhosis. Case presentation Here, we report a 17-year-old boy who presented with a portal hypertensive bleed. Though initially an early phase of cirrhosis was suspected, no identifiable cause was found. Though he had grade IV esophageal varices, the liver function was absolutely normal with no signs of liver failure. This further leads to subsequent cross-sectional imagings which lead to the diagnosis of CHF. Further genetic analysis revealed it to be a rare case of CHF associated with ADPKD, with some novel mutations in the PKD1 gene. Conclusion CHF is a rare disorder needing a high index of suspicion and awareness. The presence of classic radiological morphological features of left lobe hypertrophy and right lobe atrophy with the tell-tale histopathological findings, fibrous enlargement of the portal tract, and irregularly shaped proliferating bile ducts often clinches the diagnosis.