Article
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report.
BMC pediatrics - 18 May 2021
Miyamoto Ryosuke, Sada Jun, Ota Koki, Kaneko Kenitiro, Kusano Hironori, Azuma Yoshiteru, Okumura Akihisa
Abstract excerpt
BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis. Jaundice and fatty liver often improve by 1 year of age. We herein describe a girl who was diagnosed with NICCD based on an SLC25A13 mutation, although no fatty...
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