Vascular anomalies in Alagille syndrome.
نویسنده
چکیده
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 particularly the paucity of interlobular bile duct.2 Furthermore, we recently suggested that defects of Notch signaling pathway may impair both angiogenesis and hemostasis in AGS patients and that arterial endothelial cells, which mainly express JAGGED1, play a pivotal role.3
منابع مشابه
Multiple cerebral aneurysms and subarachnoid hemorrhage in a patient with Alagille syndrome.
Although intracranial hemorrhage has frequently been found responsible for mortality in adult patients with Alagille syndrome (AGS), no specific underlying cause has been identified. We describe the case of severe subarachnoid hemorrhage in a 30-year-old woman harboring five intracranial aneurysms and multiple peripheral vascular anomalies. To evaluate a possible higher incidence of intracrania...
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BACKGROUND Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to charac...
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PURPOSE Alagille syndrome is frequently associated with optic disc anomalies. This is the first report of a patient with Alagille syndrome and myelinated retinal nerve fibers. METHODS A 5-year-old female patient was referred to the Centre for Ophthalmology before a liver transplantation. Ocular examinations including slit lamp examination and funduscopy as well as anterior segment and fundus ...
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Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.
متن کاملAlagille syndrome with a previously undescribed mutation.
BACKGROUND Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. CASE CHARACTERISTICS An 8-year old child with persisting jaundice, severe itching and failure to thrive. OBSERVATION Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biops...
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ورودعنوان ژورنال:
- Circulation
دوره 110 13 شماره
صفحات -
تاریخ انتشار 2004