Alagille syndrome
Introduction
Introduction to Alagille syndrome Alagille syndrome is the most common cause of chronic cholestasis with phenotypic characteristics and is a dominant hereditary disease involving multiple systems. The syndrome was first reported in 1969 by Alagille et al. The organs involved in Alagille syndrome include the liver, heart, bones, eyes and face. The incidence of the disease is reported to be about 1/70,000 abroad. The disease has been concerned in recent years in China. The disease is congenital intrahepatic bile duct dysplasia, which is characterized by obvious enlargement of the liver. Most of the portal area under the microscope has no bile ducts, sometimes dysplastic bile ducts, many no obvious lumens, accompanied by obvious cholestatic phenomena and doors. Mild fibrosis in the tube area, interstitial fibrosis in the testis. Both men and women can develop the disease, mild jaundice occurs within 3 months after birth, intrahepatic cholestasis is the main feature of the disease; severe itching, forehead protruding, the distance between the eye and the nose is large, the lower jaw is small and sharp; the pulmonary valve can be Smear and systolic murmur; anterior arch of the spine, no fusion, no scoliosis, varying degrees of mental retardation; may have testicular dysplasia. basic knowledge The proportion of the disease: the probability of the disease occurring in a specific population is generally around 0.01%. Susceptible population: to prevent the birth of a fetus with a serious genetic disease and congenital malformation Mode of infection: non-infectious Complications: jaundice
Cause
Alagille syndrome etiology
Cause:
Congenital intrahepatic bile duct dysplasia, manifested as obvious enlargement of the liver. Most of the portal area under the microscope has no bile ducts, sometimes dysplastic bile ducts, many no obvious lumens, accompanied by obvious cholestatic phenomenon and mild portal area Fibrosis, testicular fibrosis can be seen.
Prevention
Alagille syndrome prevention
Pregnant women should avoid hazards as much as possible, including away from smoke, alcohol, drug radiation, pesticides, noise, and volatile harmful gases.
Complication
Complications of Alagille syndrome Complications
The prognosis of liver disease in AGS children with neonatal cholestasis jaundice is poor. However, severe liver complications may occur later in the liver disease and require lifelong follow-up.
Symptom
Alagille syndrome symptoms common symptoms high plasma cholesterol levels mental retardation jaundice
Both men and women can develop the disease, mild jaundice occurs within 3 months after birth, intrahepatic cholestasis is the main feature of the disease, severe itching, blood cholesterol up to 50.8mmol / L, alkaline phosphatase increased, alanine aminotransferase normal . The forehead is prominent, the distance between the eyes and the nose is large, the lower jaw is small and pointed, the pulmonary valve can smell and systolic murmur, the anterior arch of the spine is split, there is no fusion, there is no scoliosis, and there is a degree of mental retardation, there may be Testicular dysplasia.
Examine
Examination of Alagille syndrome
Liver biopsy can confirm the diagnosis.
Diagnosis
Diagnostic identification of Alagille syndrome
Can be diagnosed based on typical symptoms and liver biopsy. Only three or more of the following can be diagnosed as this disease:
1. Intrahepatic bile duct hypoplasia.
2. Peripheral pulmonary stenosis.
3. Typical facial features.
4. The anterior arch of the spine splits.
5. One or more of the immediate family members have Alagille syndrome.
Intrinsic should be differentiated from other cholestatic diseases in infants and young children.
