Alagille syndrome history and symptoms: Difference between revisions
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==Symptoms== | ==Symptoms== | ||
The most common symptom of Alagille syndrome is itching. | The most common symptom of Alagille syndrome is itching which is due to cholestasis, due to bile duct paucity as seen on liver biopsy. | ||
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. The major clinical feature is due to cholestasis, due to bile duct paucity as seen on liver biopsy. Congenital heart defect, mostly pulmonary stenosis, typical facial features, skeletal features and posterior embryotoxon in the eye are commonly found. Renal and central nervous system abnormalities may occur. | 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. The major clinical feature is due to cholestasis, due to bile duct paucity as seen on liver biopsy. Congenital heart defect, mostly pulmonary stenosis, typical facial features, skeletal features and posterior embryotoxon in the eye are commonly found. Renal and central nervous system abnormalities may occur. | ||
Revision as of 15:57, 24 July 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Alagille syndrome is a multisystem genetic disorder that affects the liver, heart, eyes,face, skeleton, kidneys and vascular system.
Symptoms
The most common symptom of Alagille syndrome is itching which is due to cholestasis, due to bile duct paucity as seen on liver biopsy.
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. The major clinical feature is due to cholestasis, due to bile duct paucity as seen on liver biopsy. Congenital heart defect, mostly pulmonary stenosis, typical facial features, skeletal features and posterior embryotoxon in the eye are commonly found. Renal and central nervous system abnormalities may occur.