Congenital hepatic fibrosis with polycystic kidney disease

Abstract

Introduction: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation and is often accompanied by renal cysts or increased renal echogenicity. Patient concerns: A 25-year-old woman was admitted to our hospital with splenomegaly and hepatic cirrhosis of a 3-month duration and fever accompanied by abdominal pain for 3 days. The second patient was a 25-year-old male referred to our hospital with hepatomegaly and splenomegaly of 6-year duration who had experienced fever for 3 months and abdominal distension for 1 week. Both 25-year-old patients were found to have CHF with polycystic kidney disease. Diagnosis: Radiological imaging, including computed tomography (CT), magnetic resonance imaging (MRI), and sonography, revealed hepatic fibrosis, portal hypertension, splenomegaly, ascites, bile duct malformation, polycystic kidneys, and CHF. For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as “undetermined” in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases. Interventions: The first patient had undergone a splenectomy for anemia 2 months previously. Because there is no radical cure for CHF, and due to economic reasons, neither patient received liver transplantation. Therefore, we administered only anti-fibrotic supportive treatment for symptoms. Outcomes: Both patients were discharged after their symptoms improved, and both survived for 2 years of follow-up. Conclusion: These cases highlight the value of radiological imaging, pathological examination, and genetic evaluation for the diagnosis of CHF. When an individual with unexplained cirrhosis presents with bile duct dilation and malformation as well as polycystic kidneys, the possibility of CHF should be considered. For individuals found to have polycystic kidneys at a young age, the results of liver function tests and imaging examinations including Fibroscan imaging should be continuously and dynamically monitored to enable early diagnosis of CHF.

Natural Sulfur-Containing Compounds: An Alternative Therapeutic Strategy against Liver Fibrosis

“…There is also a congenital form of hepatic fibrosis, an autosomal recessive disorder that primarily affects the hepatobiliary and renal system [2]. Liver fibrosis can regress in the initial stages, if the causative agent is removed, on the contrary, it can lead to cirrhosis and liver failure [3,4].…”

Caroli’s Syndrome: An Early Presentation

“…CHF is characterized by a variable degree of periportal fibrosis and hyperplasia of the bile ducts that does not alter the architecture of the liver. However, it alters the venous resistance of the portal branches leading to the development of portal hypertension [ 5 , 6 ]. CHF is often misdiagnosed as cirrhosis, despite the differentiating factor that hepatocellular function remains normal in CHF [ 5 ].…”

“…To our knowledge, there are two reported cases in the English literature of pure CHF presenting with hepatic failure and cirrhosis and a report of an Iranian woman who developed cirrhosis and subsequently hepatocellular carcinoma [ 7 , 8 ]. CHF is usually diagnosed during adolescence or young adulthood, and shows equal distribution between sexes [ 5 , 6 ]. Four clinical presentations are detailed in the literature and include portal hypertension, cholangitic, mixed form, and the latent-presentation at a late age [ 6 ].…”

“…CHF is usually diagnosed during adolescence or young adulthood, and shows equal distribution between sexes [ 5 , 6 ]. Four clinical presentations are detailed in the literature and include portal hypertension, cholangitic, mixed form, and the latent-presentation at a late age [ 6 ]. The most common presentation is portal hypertension with consequent development of esophageal varices, which may result in hematemesis or melena [ 6 , 9 ].…”

“…Four clinical presentations are detailed in the literature and include portal hypertension, cholangitic, mixed form, and the latent-presentation at a late age [ 6 ]. The most common presentation is portal hypertension with consequent development of esophageal varices, which may result in hematemesis or melena [ 6 , 9 ]. The patient in our case became symptomatic at an unusual age but with a typical clinical presentation.…”