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Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 100,000 live births. It is named for Daniel Alagille. ==Presentation== The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity) or, in some cases, the complete absence of bile ducts (biliary atresia). Other signs of Alagille syndrome include congenital heart problems, an unusual butterfly shape of one or more of the bones of the spinal column that can be seen in an x-ray, certain eye defects such as posterior embryotoxon, and narrowed pulmonary arteries that can contribute to increased pressure on the right heart valves. Tetralogy of Fallot is a heart defect common in Alagille's syndrome patients. This defect consists of four separate heart abnormalities: Pulmonary stenosis; overriding aorta; ventricular septal defect; and right ventricular hypertrophy. Untreated Tetralogy of Fallot mortality rates range from 70 percent by age 10 to 95 percent by age 40. However, complete surgical repair can significantly improve both longevity and quality of life in Alagille's patients. Many people with Alagille syndrome have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. The kidneys and central nervous system may also be affected. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Alagille syndrome」の詳細全文を読む スポンサード リンク
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