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Congenital Hepatic Fibrosis

Ductal plate malformation leading to portal fibrosis and biliary dysgenesis with portal hypertension.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Congenital Hepatic Fibrosis?

Congenital hepatic fibrosis (CHF) is a developmental ductal plate malformation characterized by periportal fibrosis and abnormal bile ducts. It is part of the spectrum of fibropolycystic liver diseases and frequently coexists with autosomal recessive polycystic kidney disease (ARPKD), Caroli syndrome, Joubert syndrome and Bardet-Biedl syndrome.

Clinical phenotypes include the portal hypertension form (variceal bleeding, splenomegaly), cholangitic form (recurrent ascending cholangitis), latent form (incidentally found), and combined forms with kidney disease. Serum aminotransferases are usually normal or only mildly elevated, while imaging shows enlarged liver with fibrosis and biliary dilatations.

Diagnosis combines clinical features, ultrasound, MRCP and liver biopsy showing the characteristic ductal plate malformation. Management is supportive with surveillance for esophageal varices and treatment of cholangitis; portosystemic shunting and ultimately liver, kidney or combined transplantation may be required.

Symptoms

Portal hypertension and splenomegaly
Esophageal variceal bleeding
Recurrent cholangitis
Hepatomegaly
Renal manifestations of ARPKD
Failure to thrive (in pediatric forms)
Mildly elevated liver enzymes

Risk Factors

Autosomal recessive PKD (ARPKD)
Family history of ciliopathy
Caroli syndrome or disease
Joubert or Bardet-Biedl syndrome
Consanguinity
PKHD1 gene mutations
Other syndromic ciliopathies

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Hematemesis or melena
  • Recurrent fever and jaundice
  • Progressive abdominal distension
  • Pediatric growth failure with hepatomegaly
  • Renal dysfunction with liver disease

Treatment Methods

01
Variceal surveillance and band ligation
02
Antibiotic therapy of cholangitis
03
Portosystemic shunt or TIPS
04
Renal replacement therapy in ARPKD
05
Liver transplantation
06
Combined liver-kidney transplantation

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.