title: [Neonatal intrahepatic cholestasis caused by citrin deficiency: a histopathologic study of 10 cases].
abstract: OBJECTIVE
  To investigate the diagnostic value of histopathological changes in the liver of patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
  
  
  METHODS
  Liver specimens from 10 cases of NICCD were evaluated by hematoxylin-eosin stain, histochemistry and immunohistochemistry (EnVision method). SLC25A13 mutation analysis was performed to correlate with histopathology.
  
  
  RESULTS
  Most specimens showed varying degrees of fat deposition in hepatocytes, necrotic inflammation, cholestasis and fibrosis (so-called tetralogy). The combination of the above four histological changes was highly characteristic for NICCD. With the progression of the disease, hepatic fibrosis deteriorated and ultimately led to cirrhosis.
  
  
  CONCLUSIONS
  NICCD should be suspected in the presence of cholestasis during infancy. A liver biopsy must be performed to rule out other liver diseases. The tetralogy of the hepatic histopathological changes has a highly diagnostic value for NICCD, which is also practical for accurately assessing the degree of inflammation and fibrosis, and similarly the progression of hepatic cirrhosis.
authors.affiliation: Department of Pathology, the First Affiliated Hospital of Jinan University, Guangzhou, China.
authors.forename: Guang-yu
authors.initials: GY
authors.lastname: Jiang
authors.forename: Zhao-ming
authors.initials: ZM
authors.lastname: Cheng
authors.forename: Kai-shan
authors.initials: KS
authors.lastname: Liu
mesh_terms: D001706:Biopsy; D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D002780:Cholestasis, Intrahepatic / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D018450:Disease Progression; D005260:Female; D022781:Hepatocytes / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000473:pathology; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
chemical_list: D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin