A case of Alagille syndrome presenting with chronic cholestasis in an adult

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, verte...

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Bibliographic Details
Published in:Clinical and molecular hepatology 2017, 23(3), , pp.260-264
Main Authors: Kim, Jihye, Yang, Bumhee, Paik, Namyoung, Choe, Yon Ho, Paik, Yong-Han
Format: Article
Language:English
Subjects:
Adult
Adults
Alagille syndrome
Alagille Syndrome - complications
Alagille Syndrome - diagnosis
Alagille Syndrome - drug therapy
Alkaline Phosphatase - blood
Bile ducts
Bile-duct paucity
Biopsy
Case Report
Cholestasis
Cholestasis - complications
Cholestasis - diagnosis
Enzymes
Gallbladder diseases
gamma-Glutamyltransferase - blood
Genes
Genetic counseling
Hepatitis
Humans
Immunoglobulins
JAG1
Laboratories
Liver - diagnostic imaging
Liver - pathology
Liver cirrhosis
Liver diseases
Male
Medical history
Mutation
Patients
Pediatrics
Tomography
Tomography, X-Ray Computed
Ultrasonography
Ursodeoxycholic Acid - therapeutic use
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Summary: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.
ISSN:2287-2728
2287-285X
DOI:10.3350/cmh.2016.0057