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Rev Med Suisse. 2019 Aug 28;15(660):1506-1510.

[Alagille Syndrome].

[Article in French; Abstract available in French from the publisher]

Author information

1
Service de gastroentérologie et d'hépatologie, CHUV, Université de Lausanne, 1011 Lausanne.
2
Centre de transplantation d'organes, CHUV, Université de Lausanne, 1011 Lausanne.
3
Service de cardiologie, CHUV, Université de Lausanne, 1011 Lausanne.
4
Institut universitaire de pathologie, CHUV, Université de Lausanne, 1011 Lausanne.
5
Service de génétique médicale, CHUV, Université de Lausanne, 1011 Lausanne.

Abstract

in English, French

Alagille syndrome is a rare disorder with low physician awareness. It affects multiple organs and thus patient management involves several medical specialties. It is an autosomal dominant disorder with significant intrafamilial variability. The most frequent clinical manifestations are neonatal jaundice, chronic cholestasis as well as cardiac, ocular and skeletal malformations associated with characteristic facial features. Inherited mutations affect the Notch pathway. Although the molecular basis of Alagille syndrome is well defined, no specific targeted therapy exists.

PMID:
31496175
[Indexed for MEDLINE]

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