Congenital malformations of liver
What is it?
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. Alagille syndrome is characterized by narrow, and malformed bile ducts, which cause accumulation of bile fluids and lead to liver damage in childhood. Heart abnormalities may include pulmonic stenosis, and ventricular septal defect. Also, babies that are born with this condition may have special facial features such as broad and prominent forehead, deep-set eyes and a small pointed chin. The severity of the disorder changes and symptoms may range from mild to severe. The condition is caused due to a mutation in the JAD1 gene or less commonly in other genes.
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Congenital malformations of liver.
Additional names
This group contains additional names:
- Alagille's syndrome
Signs & symptoms
Symptoms may include yellow skin, yellowing of the eyes, itching skin, delayed growth, heart murmuts, changes in blood vessels, facial characteristics, spinal growth changes, kidney disease, enlarged spleen, white ring in the eyes, and deposits of cholesterol in the skin.
Diagnosis
Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include blood test, imaging test, abdominal ultrasound, liver biopsy and genetic testing.
Treatment
Treatment depends on the symptoms and their severity but may include medicine to increase bile flow out of the liver, itch relievers, vitamin supplements, high-calorie food supplements, surgery and liver transplant.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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