Alpha1-antitrypsin deficiency
Introduction
Introduction to 1-antitrypsin deficiency 1-antitrypsin deficiency is a congenital metabolic disease caused by a deficiency in the blood anti-protease component -antitrypsin (1-AT), which is inherited by autosomes. The clinical features are neonatal hepatitis, cirrhosis of infants and adults, liver cancer and emphysema. basic knowledge The proportion of illness: 0.005% Susceptible people: good for adults and infants Mode of infection: non-infectious Complications: Hepatitis Astragalus Emphysema
Cause
1-antitrypsin deficiency etiology
Portal fibrosis and biliary hyperplasia (35%):
There is extensive portal fibrosis, and even similar to cirrhosis, there is obvious bile duct hyperplasia, jaundice subsided 6 months ago, but the liver and spleen progressively enlarge and harden, and 2 cases appeared later. High blood pressure, but there is no abnormality in extrahepatic bile ducts of this type of patients.
Small bile duct dysplasia (25%):
The liver structure is normal, there is mild hepatocyte injury, the portal area is only slightly fibrotic, but the number of bile ducts is significantly reduced, and cholestasis is scattered in the hepatic lobules. The clinical course is progressive jaundice with pruritus and hypercholesterolemia.
Hepatocyte damage (15%):
It is characterized by hepatomegaly, relatively infiltrating inflammatory cells, and mostly mononuclear cell infiltration, with or without liver fibrosis, and may have cholestatic, but no gallbladder is formed in the portal area.
Prevention
1-antitrypsin deficiency prevention
Preventive measures include quitting smoking, removing factors that can cause obstruction of the airways, preventing bronchopulmonary infections, and evaluating general health.
Complication
1-1-antitrypsin deficiency complications Complications, hepatitis, jaundice, emphysema
Patients are prone to hepatitis, cholestasis of jaundice, cirrhosis, liver cancer, emphysema, upper gastrointestinal bleeding or hepatic coma.
Symptom
1-antitrypsin deficiency symptoms common symptoms hepatomegaly upper gastrointestinal bleeding hepatic coma jaundice portal hypertension
In the first week after birth, there may be cholestasis of jaundice, stool is not colored, urine color is deep, liver enlargement can be found in physical examination, biochemical indicators have indications of obstructive jaundice, and jaundice often disappears in 2 to 4 months. Liver cirrhosis can be seen after age.
In adults, most patients with 1-AT deficiency present with prominent portal hypertension. Patients often die of upper gastrointestinal bleeding and/or hepatic coma, often with emphysema, cirrhosis of men and liver cancer. The rate is higher than women.
Patients with cirrhosis caused by 1-AT deficiency have a high incidence of liver tumors, mostly from hepatocytes, and some originate from the bile duct.
Examine
1-antitrypsin deficiency test
It can be used for the determination of normal 1-AT content, Pi phenotype analysis to confirm the diagnosis, liver biopsy can be seen that hepatocytes are filled with spherical red bodies of different sizes, and PAS staining is positive.
Diagnosis
Diagnosis and identification of 1-antitrypsin deficiency
Diagnosis of this disease can rely on family history, neonatal cholestasis, accompanied by emphysema or repeated lung infection, paper protein electrophoresis found 1-globulin deficiency, can be used for normal 1-AT content determination, Pi phenotype analysis To confirm the diagnosis, liver biopsy showed that the hepatocytes were filled with spherical red bodies of different sizes, and PAS staining was positive, no need to identify.
