Alagille syndrome
Alagille syndrome is a rare genetic disorder caused by mutations of the JAG1 gene on Chromosome 20, characterized by multisystem disorder involving primarily the liver, heart, eyes, face and skeleton seen in infants and young children. Alagille syndrome affects 1 in 100,000 people. 
Patients with Alagille syndrome usually suffer a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver and have symptoms of jaundice, loose stools, and poor growth within the first three months of life. Later, there is itching, fatty deposition in the skin, persistent jaundice. Other features are abnormalities in the kidney, cardiovascular system (murmurs), eyes and spine (spinal column may look like the wings of a butterfly on x-ray).
Diagnosis of Alagille syndrome usually relies on clinical findings and confirmed by biopsy and genetic analysis.
There is no known cure for Alagille’s Syndrome. Most of the treatments available are aimed at improving, increasing the bile flow from the liver, maintaining normal growth and development. Medications such as cholestyramine (Questran, Prevalite), rifampin naltrexone, or antihistamines may be prescribed to relieve pruritus. Hydrating the skin with moisturizers and keeping fingernails trimmed to prevent skin damage from scratching are important. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. Liver transplantation may be consider in some liver failure patients.
Prognosis of Alagille syndrome depends on several factors including multiorgan involvement. Recent studies report that approximately 75 percent of children with Alagille syndrome live to at least 20 years of age because of improvement in therapies
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Filed Under: pediatrics
