A case of Alagille syndrome presenting with chronic cholestasis in an adult
Clinical and Molecular Hepatology
;
: 260-264, 2017.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Arteria Pulmonar
/
Esqueleto
/
Conductos Biliares Intrahepáticos
/
Colestasis
/
Síndrome de Alagille
/
Facies
/
Penetrancia
/
Fosfatasa Alcalina
/
Gamma-Glutamiltransferasa
/
Corazón
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Clinical and Molecular Hepatology
Año:
2017
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS