Congenital liver fibrosis

Congenital liver fibrosis

Congenital liver fibrosis is a complex hereditary disorder consisting of several diseases that mainly affect the kidneys and liver. It is an extremely serious disease that appears at birth and has a high mortality rate in the first years of life of children.

Over 25% of children die mainly from kidney failure due to the disease, even in their first year of life. This hereditary disease is autosomal recessive (the genetic defect is transmitted by both parents) and appears as a result of a genetic malformation.

Congenital liver fibrosis consists of 3 diseases:

  • liver fibrosis (accumulation of excess non-functional scar tissue in the liver);
  • portal hypertension (increased blood pressure in the port system);
  • cystic kidney disease (cysts located in the kidneys).

How is congenital liver fibrosis manifested?

Symptoms appear from early childhood. These mainly include severe abdominal pain. Spleen and liver may also be enlarged, but they can only be detected after a physical medical examination. Complications of portal hypertension may occur - esophageal-gastric varices and bleeding.

There may also be vomiting with traces of blood or stool with hemorrhagic presence. It was found that in the first phase symptoms of portal hypertension appear, among which are hematemesis (vomiting with blood) and melena (chair with traces of blood).

How is the diagnosis made?

This disease is usually detected in childhood, either because the spleen or liver is enlarged, or because of variceal bleeding. Thus, the doctor will perform a thorough physical examination to detect hepatomegaly (especially in the left hepatic lobe).

When the doctor touches the liver it feels firm and the surface is smooth or finely nodular. Sometimes an abnormal margin of the liver can be noticed, which may also suggest cirrhosis.

However, hepatic congenital fibrosis differs from cirrhosis. Besides the liver tests, the analyzes also include:

  • ultrasound of the liver and kidneys;
  • a computerized scan of the abdomen;
  • an x-ray of blood vessels (angiography);
  • endoscopy (for the detection of varicose veins);
  • a liver biopsy.

What complications can occur?

There are several complications that may arise from the association of diseases that form congenital liver fibrosis:

  • kidney failure (can be fatal);
  • variceal haemorrhage;
  • recurrent cholangitis;
  • congenital heart disease (pulmonary hypertension);
  • intestinal lymphangiectasis (dilatation and blockage of intestinal lymphatic vessels);
  • pulmonary fibrosis;
  • congenital ataxia;
  • pancreatic fibrosis etc.

How is congenital liver fibrosis treated?

The therapeutic behavior depends on how severe the associated diseases are and can be formed from medicines or surgery can be resorted to. Some of the following measures can be taken depending on the particularities of each:

  • blood transfusions (only if variceal bleeding is detected);
  • if acute cholangitis is detected then the doctor will also administer antibiotics;
  • it is also used to administer fluids intravenously;
  • if necessary, vasopressin or vasoconstrictor should be used.

In surgical therapy, the doctor can use several measures, depending on the complications and symptoms the patient presents:

  • I am portosystemic (in case of variceal haemorrhage refractory);
  • placement of a Sengtaken-Blakemore gastric well (to stop bleeding);
  • ligation with the endoscopic band;
  • splenorenal and orange sounds;
  • liver transplant (when complications occur or the disease does not respond to other forms of treatment).

Survival rate is higher if the disease is detected in time, and variceal hemorrhage is held in full swing. But most of the time the disease is detected rather late when complications already occur, one of them being renal failure which most often causes the death of children.

Tags Congenital disorders Hereditary diseases Newborn malformations Genetic diseases