منابع مشابه
Alagille Syndrome: a Review
Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to pauci...
متن کاملAlagille syndrome: clinical perspectives
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular ab...
متن کاملAlagille syndrome: family studies.
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incid...
متن کاملVascular anomalies in Alagille syndrome.
To the Editor: We read with interest the article by Kamath et al1 about vascular anomalies in Alagille syndrome (AGS). We know that hypotheses are not anyone’s property, but it is unfair to omit two previously published papers from our team. Indeed, we suggested after studying JAGGED1 expression during human embryogenesis that abnormal angiogenesis was implicated in the pathogenesis of AGS and ...
متن کامل[Aortic aneurysm in Alagille syndrome].
Alagille Syndrome (AS) is a multisystemic genetic disorder, inherited through an dominant autosomal feature of variable expression. In 70% of cases, the causal gene is JAG 1, located in chromosome 20.1 Clinically, it appears with intermittent episodes of cholestasis that start in the neonatal period and are due to the absence of intrahepatic biliary ducts. Malformations associated with the synd...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/38309