A case of Alagille syndrome presenting with chronic cholestasis in an adult
Clinical and Molecular Hepatology
;
: 260-264, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-219268
ABSTRACT
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Artéria Pulmonar
/
Esqueleto
/
Ductos Biliares Intra-Hepáticos
/
Colestase
/
Síndrome de Alagille
/
Fácies
/
Penetrância
/
Fosfatase Alcalina
/
Gama-Glutamiltransferase
/
Coração
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Clinical and Molecular Hepatology
Ano de publicação:
2017
Tipo de documento:
Artigo
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