Different regional distribution ofSLC25A13mutations in Chinese patients with neonatal intrahepatic cholestasis

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal choles...

Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis.

BACKGROUND Intrahepatic neonatal cholestasis can be the initial manifestation of a very heterogeneous group of illnesses of different etiologies. AIM To evaluate and compare clinical and laboratory data among intrahepatic neonatal cholestasis groups of infectious, genetic-endocrine-metabolic and idiopathic etiologies. METHODS The study evaluated retrospectively clinical and laboratory data ...

Progressive Familial Intrahepatic Cholestasis

Intrahepatic cholestasis of pregnancy.

Intrahepatic cholestasis of pregnancy is the most common pregnancy-specific liver disease that typically presents in the third trimester. The clinical features are maternal pruritus in the absence of a rash and deranged liver function tests, including raised serum bile acids. Intrahepatic cholestasis of pregnancy is associated with an increased risk of adverse perinatal outcomes, including spon...

Intrahepatic cholestasis in the newborn.

Hitherto little attention has been paid to cholestatic jaundice in the newborn which occurs in the absence of rhesus incompatibility. 4 such cases, among a consecutive series of 24 newborns with prolonged neonatal jaundice occurring in the Devon and Exeter clinical area since 1960, are here described in detail to demonstrate that their clinical and histological picture, and their prognosis, is ...