A case of Alagille syndrome presenting with chronic cholestasis in an adult
Clinical and Molecular Hepatology
;
: 260-264, 2017.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pulmonary Artery
/
Skeleton
/
Bile Ducts, Intrahepatic
/
Cholestasis
/
Alagille Syndrome
/
Facies
/
Penetrance
/
Alkaline Phosphatase
/
Gamma-Glutamyltransferase
/
Heart
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Clinical and Molecular Hepatology
Year:
2017
Type:
Article
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