Ruiz-Castillo MA, Michel-Penichet F, Cervantes-Bustamante R, Zarate-Mondragón F, Mata-Rivera N, Montijo-Barrios E, García-Campos M, Ramírez-Mayans JA

Language: Spanish
References: 15
Page: 13-17
PDF size: 81.62 Kb.

ABSTRACT

Alagille´s syndrome is a complex genetical disorder, autosomical and dominant of variable expression. It is found in aproximately 1/100,000 born alive without gender predominance. Several mutations have been described, of which 50%-70% are sporadical or de novo and almost to 30%-50% are hereditary. This syndrome is defined as the association of chronic cholestasis due to intrahepatic billiary duct hypoplasia, that occurs in recurrent episodes that begin in neonatal period or afterwards associated to other disorders that define the syndrome. The associated malformations to Alagille´s syndrome are cardiac, ophthalmic, characteristic fascies, and vertebral deformities. Approximately 15% of all patients will evolve to severe liver disease and will require liver transplantation. From 12 studied cases, the average age at diagnosis was 20 months, of which 6 were female. Most frequent major criteria were billiary duct paucicity characteristic fascies and cardiac disorders, in all cases, meanwhile vertebral deformities were found in three cases and ophthalmic in two cases. Long term prognosis depends on liver disease severity and associated malformation. The management must be multidisciplinary.

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