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Talk:Alagille Syndrome: Difference between revisions
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Alagille syndrome is also known by the acronym AGS (Note: There is also another disease known under the acronym: the adrenogenitaalsyndroom). | Alagille syndrome is also known by the acronym AGS (Note: There is also another disease known under the acronym: the adrenogenitaalsyndroom). | ||
Alagille syndrome is a complex disorder of several organ systems, mainly the liver, the heart, the eyes, the face and the skeleton. The main symptoms are those of cholestasis (accompanied by itching and jaundice), recognizable by small bile ducts in liver biopsy; congenital heart defects, especially of the ''longarterieën'', eye abnormalities, a typical facial shape, and "butterfly vertebrae. Kidney abnormalities and abnormalities of the central nervous system are also possible. The mortality is about 10%, with vascular problems in the central nervous system, heart disease, and liver disease are the leading causes of death. The symptoms are highly variable even within one family. The disease is autosomal dominant hereditary. New mutations (sporadic cases) occur frequently. If it is known what the nature of the disorder in a family, prenatal diagnosis is possible in principle. Genetic research merely to verify the diagnosis in someone who meeting the clinical criteria, will have no consequences, and is currently not recommended | |||
translated from nl version | translated from nl version | ||
Latest revision as of 19:22, 23 July 2015
Alagille syndrome is also known by the acronym AGS (Note: There is also another disease known under the acronym: the adrenogenitaalsyndroom).
Alagille syndrome is a complex disorder of several organ systems, mainly the liver, the heart, the eyes, the face and the skeleton. The main symptoms are those of cholestasis (accompanied by itching and jaundice), recognizable by small bile ducts in liver biopsy; congenital heart defects, especially of the longarterieën, eye abnormalities, a typical facial shape, and "butterfly vertebrae. Kidney abnormalities and abnormalities of the central nervous system are also possible. The mortality is about 10%, with vascular problems in the central nervous system, heart disease, and liver disease are the leading causes of death. The symptoms are highly variable even within one family. The disease is autosomal dominant hereditary. New mutations (sporadic cases) occur frequently. If it is known what the nature of the disorder in a family, prenatal diagnosis is possible in principle. Genetic research merely to verify the diagnosis in someone who meeting the clinical criteria, will have no consequences, and is currently not recommended
translated from nl version