Congenital hepatic fibrosis in a 9-year-old female patient - a case report
Kamil Janowski1, Maria Goliszek1, Joanna Cielecka-Kuszyk1
1The Children's Memorial Health Institute, Warsaw, Poland.
Insights
Congenital hepatic fibrosis (CHF) is a rare genetic disorder causing liver scarring and high blood pressure in the portal vein. This study reviews a case of CHF, a fibropolycystic disease linked to bile duct abnormalities.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disorder.
- It is characterized by hepatic fibrosis and portal hypertension, stemming from ductal plate malformation (DPM).
- CHF belongs to the group of fibropolycystic diseases, often associated with kidney conditions.
Observation:
- The study presents a case of a 9-year-old female with congenital hepatic fibrosis.
- The patient exhibited nonspecific clinical manifestations.
- A review of existing literature on CHF is included.
Findings:
- Congenital hepatic fibrosis is a fibropolycystic disease.
- Ductal plate malformation is the underlying cause of CHF.
- CHF presents with varied clinical forms including portal hypertensive, cholangitic, mixed, and latent.
Implications:
- Understanding CHF is crucial for diagnosing and managing rare liver diseases in children.
- Recognizing CHF within the spectrum of fibropolycystic diseases aids in comprehensive patient care.
- Further research into DPM and associated genetic factors may reveal new therapeutic targets.
Abstract:
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes. Most of them are accompanied by progressive cystic degeneration of the kidneys. We present the case of a 9-year-old female patient with CHF with nonspecific clinical manifestation and a review of the literature.
