Congenital hepatic fibrosis

Congenital hepatic fibrosis ( KLF ), often congenital hepatic fibrosis ( CHF from engl. Congenital hepatic fibrosis ) called, is an autosomal recessive genetic disease that leads to scarring of the liver vessels. It is usually associated with other syndromes such as Meckel - Gruber syndrome, Jeune syndrome, Ivemark Syndrome I, of autosomal recessive polycystic kidney disease ( ARPKD ), tuberous sclerosis, and vaginal atresia associated.

The clinical picture

In polycystic kidney disease autosomal recessive congenital hepatic fibrosis occurs always as a side effect, while the NPD is often diagnosed without pathological findings of the kidney.

Due to the scarring of the blood vessels of the liver and bile ducts are not properly developed, which makes the blood flow within the body and raise blood pressure in the portal vein can ( portal hypertension ) in the KLF. Chronic blood backflow in the portal vein leads to an enlargement of the spleen (splenomegaly ) and varicose veins in the esophagus ( esophageal varices ). Furthermore, the bile ducts extend, which in turn leads to an additional scarring of the liver.

The effect on patients may vary greatly. The spectrum ranges from complete freedom from symptoms to a serious life-threatening complications, such as a bacterial cholangitis or the occurrence of hepatocellular carcinoma. The liver function may be affected as badly, that a liver transplant may be necessary.

Diagnosis

Congenital hepatic fibrosis is often diagnosed as a result of portal hypertension caused by them. The liver appears in the sonographic examination ( diagnostic ultrasound ) in normal size with smooth contours. Characteristic of the KLF are sharply demarcated echogenic portal wall reflections with hardened Lumia. The spleen is often enlarged significantly.