Curious Case of Alagille Syndrome: Case Report with NANDANIC-NOC Linkage in Care Plan
Artigo
| IMSEAR
| ID: sea-218273
ABSTRACT
Alagille syndrome is a rare and complex multisystem disorder caused by an autosomal dominant genetic mutation of JAG1 (90% cases) and NOTCH2 (1-2% cases) genes located on the short arm of chromosome 20. This case is reported as per the CARE (for Case Reports, 2013) guidelines. A 14-year old male, known case of chronic cholestatic liver disease of neonatal onset, diagnosed with Alagille syndrome as evident from NOTCH 2 mutation in genetic analysis and paucity of intrahepatic bile ducts on biopsy presented with portal hypertension, growth failure and persistent hyperbilirubinemia.
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Índice:
IMSEAR (Sudeste Asiático)
Ano de publicação:
2022
Tipo de documento:
Artigo
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