Congenital hepatic fibrosis - Causes, Symptoms, Diagnosis and Treatment
Congenital hepatic fibrosis (WWF) - A genetically determined pathology, which is characterized by a portal fibrosis violation morphogenesis intrahepatic branches of the portal vein and bile ducts. Clinically it can manifest portal hypertension with gastrointestinal bleeding and /or cholangitis with characteristic symptoms. In the diagnosis of the most informative are laboratory markers of fibrosis, ultrasonography, cholangiography, portal venography and liver biopsy. Treatment is symptomatic. In severe hypertension in the portal vein and massive bleeding carried venous shunting.
Congenital fibrosis of the liver
portal hypertension on the background of ongoing timely remedial measures, as a rule, favorable prognosis when combined with cholangitis - doubtful. In some cases, there may be a progressive renal failure or malignancy areas of fibrosis with formation of cholangiocarcinoma.
cholestasis occurs.
There are three main clinical forms of congenital hepatic fibrosis:
1. WFTU with portal hypertension . The most common form. It is characterized by hepatosplenomegaly, expansion of the venous anastomosis of the anterior abdominal wall, esophagus and rectum due to disorders of blood flow through the portal vein.
2. WFTU with cholangitis or Caroli's disease . In this form of congenital cystic fibrosis observed expansion of the bile ducts. Characterized by the development of cholelithiasis. Pathology is often complicated by severe infections of the biliary tract.
3. Combined option WWF . It combines the previous two forms, characterized by the simultaneous development of portal hypertension and cholangitis and cholelithiasis.
gastrointestinal bleeding of varying intensity of varicose veins of the esophagus or rectum. Up to 5 years, this form of congenital hepatic fibrosis is usually not detected. The primary symptom - hepatosplenomegaly, which can manifest itself in children increases the abdomen. For small bleedings gradually formed Clinic chronic post-hemorrhagic anemia: weakness, pale skin, dizziness, loss of appetite, dry skin, disorders of the hair and nails, stable tachycardia. After some time, it may be massive gastrointestinal bleeding kishechnoee. In addition to acute hemorrhagic syndrome, there are characteristic symptoms: at break of esophageal varices - vomiting blood, bleeding from the rectum - an admixture of blood or melena unchanged.
Congenital fibrosis of the liver with cholangitis may be diagnosed early as three years of age. It is characterized by severe pain in the right hypochondrium, fever up to 385-39 ° C. Less commonly, there is jaundice, which is manifested by yellowing of the sclera, mucous membranes in the mouth, then - the skin. Often, this form is accompanied with cholelithiasis appropriate for the pediatric clinic. Isolated WWF with cholangitis is rare, usually a combination of portal hypertension.
Combined form of congenital hepatic fibrosis combines portal hypertension and cholangitis. As a rule, especially in the later manifestation (after 7-10 years and in adulthood), hypertension occurs primarily in the portal vein, which was later supplemented with cholangitis. WWF is also often accompanied by renal disease in the form of renal dysplasia, polycystic kidney disease and the clinic nefronoftiza renal failure and other symptoms of these pathologies.
alkaline phosphatase in the plasma, the presence of occult blood in feces. Can be determined by the signs of iron deficiency anemia, and an exacerbation of cholangitis - leukocytosis with a shift to the left formula, increased erythrocyte sedimentation rate. Liver enzymes (ALT, AST), proteinogramma, bilirubin, usually within the normal range. Also, there are fibrosis markers: hyaluronic acid, procollagen III, laminin, collagen type IV, and others.
The leading role in the diagnosis of congenital hepatic fibrosis play an instrumental diagnostic methods - ultrasound, CT, cholangiography, portal venography and liver biopsy. Ultrasonography and computed tomography determined vysokoehogennye pockets that match fibrous tyazham. Also they can be found stones in the biliary tract and related renal disease. When transdermal or endoscopic cholangiography can detect stenosis of the intrahepatic bile ducts. The portal venography allows you to visualize the increased blood circulation of venous collaterals, possible anomalies of intrahepatic branches of the portal vein. The diagnosis of congenital hepatic fibrosis in children 35-50% cases it is possible to confirm by needle biopsy. Histological analysis of the resulting fragments are determined characteristic of the pathology morphological changes.
The differential diagnosis of congenital hepatic fibrosis is performed with hepatorenal polycystic infantile and adult type polycystic liver, as well as acquired diseases, which are accompanied by portal hypertension and /or lesions of the biliary tract.
pediatricians, pediatric gastroenterology and hepatology, is the prevention of gastrointestinal bleeding and acute cholangitis. For small and rare bleeding from dilated esophageal veins held their endoscopic sclerotherapy. In severe portal hypertension shows venous bypass. Most often join the portal and inferior vena, splenic and renal veins or impose ileomezenterikokavalny anastomosis. These surgeries are carried out after massive bleeding episodes with a view to preventing recidivism, rarely - only if there are signs of portal hypertension. Prevention of exacerbations of cholangitis in congenital hepatic fibrosis includes regular nutrition, early diagnosis and treatment of all diseases of the gastrointestinal tract. In the formation of large stones Biliary performed their surgical removal.
The prognosis of congenital hepatic fibrosis depends on the form of the disease and the treatment. Portal hypertension can occur long latent or minimal clinical signs. Against the background of venous bypass timely outcome in most cases positive. Congenital fibrosis of the liver with cholangitis has a less favorable prognosis. These children often develop recurrent biliary tract infectious diseases that are difficult to treat. Typically, this form of the disease causes the death of a child in pre-school or middle school age. In some cases, it may form a malignant tumor - cholangiocarcinoma. Death may also occur due to progressive renal failure with associated anomalies.
Prevention of congenital hepatic fibrosis involves medical and genetic counseling couples. The family planning center is the pedigree in order to assess the likelihood of this disease in the unborn child.