[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: Guang-yu Jiang, Zhao-ming Cheng, Kai-shan Liu
• Journal: Zhonghua bing li xue za zhi = Chinese journal of pathology (Zhonghua Bing Li Xue Za Zhi) Vol. 41 Issue 7 Pg. 452-5 (Jul 2012) ISSN: 0529-5807 [Print] China
• PMID: 22932455 (Publication Type: English Abstract, Journal Article)

Chemical References

• Calcium-Binding Proteins
• Mitochondrial Membrane Transport Proteins
• Organic Anion Transporters
• SLC25A13 protein, human
• citrin

Topics

• Biopsy
• Calcium-Binding Proteins (deficiency, genetics, metabolism)
• Cholestasis, Intrahepatic (etiology, genetics, pathology)
• Disease Progression
• Female
• Hepatocytes (pathology)
• Humans
• Infant
• Liver (pathology)
• Liver Cirrhosis (pathology)
• Male
• Mitochondrial Membrane Transport Proteins (genetics)
• Mutation
• Organic Anion Transporters (deficiency, genetics, metabolism)