Neonatal intrahepatic cholestasis caused by citrin deficiency a histopathologic study of 10 cases
Neonatal intrahepatic cholestasis caused by citrin deficiency a histopathologic study of 10 cases
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DOI：
10.3760/cma.j.issn.0529-5807.2012.07.005
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发表时间：
2012-07-01
影响因子：
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通讯作者：
Liu Kai-shan
中科院分区：
文献类型：
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作者：
Jiang Guang-yu;Cheng Zhao-ming;Liu Kai-shan
目的探讨肝组织病理学改变对新生儿柠檬酸缺乏性肝内胆汁淤积症（NICCD）的诊断价值。方法对10例NICCD患者的肝脏标本进行HE染色、组织化学和免疫组化（EnVision法）观察。进行SLC25A13突变分析以与组织病理学相关。结果大多数标本表现为肝细胞内不同程度的脂肪沉积、坏死性炎症、胆汁淤积和纤维化（即所谓的四联症）。上述四种组织学变化的组合是NICCD的高度特征。随着病情的进展，肝纤维化恶化，最终导致肝硬化。结论婴儿期出现胆汁淤积应怀疑NICCD。必须进行肝脏活检以排除其他肝脏疾病。肝组织病理学改变的四联症对NICCD有很高的诊断价值，对准确评估炎症和纤维化程度以及肝硬化的进展也有实用价值。
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.