Neonatal intrahepatic cholestasis caused by citrin deficiency: a clinicopathological analysis of two cases
ZHANG Ji-ping
CHENG Yan-bo
ZHOU Xiao-jun
HOU Xiao-tao
TAN Dong-feng
GUAN Yang
Abstract：Ojective To explore the characteristics of clinical pathology and SLC25A13 gene mutation of neonatal intrahepatic chollestasis caused by citrin deficiency (NICCD).Methods The study was based on data of 2 cases with NICCD,the histopathology of liver biopsy,ultrapathology and genetic test results were analyzed,and the literature was reviewed.Results Both cases are boys,presented with jaundice,aged 4.5 months and 5 months,respectively.Laboratory examination showed that the patients had liver function abnormalities,high bilirubin,blood ammonia or amino acid hematic disease,hypoglycemia,hypoalbuminemia,etc.Liver biopsy and histopathology showed that severe fatty liver,cholestasis,with different degrees of inflammation and fibrosis were present in the two cases.Iron staining was found in local hepatocytes and Kupffer cells.Ultrastructurally,the middle-sized and small fat droplets were diffusely noted in the liver cells;some mitochondria were obviously abnormal in appearance,a few of them being giant and deformed in hepatocytes and capillary bile ducts.Gene detection found that 2 cases showed the mutation of SLC25A13 gene.Conclusion For unexplained infant jaundice,NICCD should be considered in the differential diagnosis;genetic testing can confirm the diagnosis,and liver biopsy pathological and ultrastructural analyses can help assess liver disease extent and prognosis,especially for the children that genetic testing is negative or with single gene heterozygous mutation.
Keywords：NICCDClinical featuresHistopathologyUltrapathologyGene
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 261-265 )