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.

Ursodeoxycholic acid: a systematic review on the chemical and biochemical properties, biosynthesis, sources and pharmacological activities

Background: Background: Ursodeoxycholic acid (UDCA), a secondary bile acid, is an acidic steroid synthesized from cholesterol in hepatocytes. UDCA is widely used for the treatment of various diseases related to liver injury. The use of UDCA to treat non-liver diseases has also been developed recently, such as neurodegenerative diseases, cancer, and obesity. Due to the important role of UDCA on human health, numerous studies in understanding its chemical and pharmacological properties have been published. Methods: Literature sources were obtained from online databases such as Science Direct, Google Scholar, Scopus and PubMed using keywords relating to the purpose of study. Critical analysis and review were performed for all literatures. Results: UDCA is a steroid compound with pharmacological properties. Seventeen enzymes are involved in its biosynthesis, which has been proposed in four pathways: classic, alternative, the Yamazaki, and 25-hydroxylation pathways. UDCA can be isolated from bovine bile, bear bile or all Ursidae, human, rabbit, cow, rat, hamster, sheep, pig, and plant. UDCA has been used in the treatment of several diseases such as primary biliary cirrhosis, intrahepatic cholestasis of pregnancy, hepatolithiasis associated with Caroli syndrome gallstones, cystic fibrosis, hepatitis C virus, chronic heart failure, neurodegenerative diseases, and obesity, as well as in the prevention of cancer. Conclusion: UDCA has a wide range of the pharmacological properties. Further investigations on its efficacy and safety on humans are required before it could be used for several indications. All genes which are responsible for UDCA biosynthesis have been elucidated. That said, further genetic engineering studies in order to find other prospective sources of UDCA could be a challenge for the future research.

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.

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

Background Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; therefore, the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients. Methods This was a retrospective analysis of 16 CS patients admitted to a single tertiary medical center on mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings of CS at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis. Results The median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in 16 enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracies of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography were 25, 69.2, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p = 0.021). Hepatic cysts with splenomegaly were detected by ultrasound in over half of CS patients. Conclusions The majority of CS patients were not diagnosed until complications of portal hypertension had already developed. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US might raise the clinical suspicion to include CS in the differential diagnosis.

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

Background: Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; therefore, the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients. Methods: This was a retrospective analysis of 16 CS patients admitted to a single tertiary medical center on mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings of CS at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis. Results: The median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in 16 enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracies of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography were 25%, 69.2%, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p=0.021). Hepatic cysts with splenomegaly were detected by ultrasound in over half of CS patients. Conclusions: The majority of CS patients were not diagnosed until complications of portal hypertension had already developed. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US might raise the clinical suspicion to include CS in the differential diagnosis.

Caroli syndrome: a clinical case

This article covers a case of the rare, hereditarily caused disease, "Caroli Syndrome". The publication of this case is important because it shows that rare diseases occur, should be diagnosed and treated at all stages of patient care. It is important to know that this pathology is diagnosed and treated according to the state program — "Rare diseases".

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

Background Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings. Imaging modalities are first-line diagnostic methods.Methods A retrospective analysis was conducted on CS patients admitted to a single tertiary medical center in Mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings at diagnosis of CS, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis. Results The median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in sixteen enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracy of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography was 25%, 69.2%, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p=0.021). Hepatic cysts with splenomegaly were found by ultrasound in over half of CS patients.Conclusions The majority of CS patients were not diagnosed until complications of portal hypertension had already developed due to the non-specific clinical presentations, rarity, and therefore low index of suspicion for CS. Some patients had positive autoantibodies, which can lead to misdiagnosis. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US, which is almost always the first imaging test, might provide a clinical clue to include CS in the differential diagnosis.