婴儿胆汁淤积性肝病肝组织病理学特征及其在病因诊断中的意义

Clinical significance of histopathologic and ultrastructural pathologic examination in etiological diag- nosis of infantile cholestatic diseases

目的 研究婴儿胆汁淤积性肝病肝活组织检查的病理及超微病理结构特征,并结合临床资料探讨其在诊断中的意义.方法 对2007-2008年在重庆医科大学儿童医院就诊的36例胆汁淤积型婴儿肝炎综合征患儿进行肝活组织检查并随访,分析其肝组织病理及超微病理特征.结果 36例婴儿胆汁淤积性肝病肝活组织检查的光镜结果显示,肝细胞肿胀、变性、坏死,多核巨细胞形成,胆管增生,纤维组织增生,肝小叶和汇管区炎性细胞浸润为主要病理表现.肝细胞淤胆,假腺腔形成、羽毛状变性和毛细胆管胆栓形成为胆汁淤积的特征.7例影像学检查除外胆道闭锁病例的肝组织呈现典型胆道梗阻征象.电镜下常见核改变、胞质溶解、炎症细胞浸润、胶原纤维增生和溶酶体增多.形态学改变结合临床表现诊断肝糖原累积病2例,尼曼皮克病1例,分类不明脂质沉积病1例.结论 婴儿胆汁淤积性肝病肝组织普通光镜和电镜下存在共同的病理改变,两者相结合增加了遗传代谢性疾病的检出率.部分影像学诊断困难的胆道闭锁患者,其肝组织形态学可提示胆道梗阻.

Objective To study the features of histopathologic and ultrastructural pathologic changes of liver biopsy in patients with infantile cholestatic disease, and to investigate its diagnostic significance combining with the clinical data. Methods Thirty-six children diagnosed as infantile cholestatic disease and recived liver biopsy in Chongqing Medical University Children＇s Hospital from Jun 2007 to Oct 2008 were enrolled and the pathologic and ultrastructural pathologic changes of liver were analyzed. Results Morphologic changes under light microscope in liver tissues included hepatocyte swelling, hepatocyte denaturation,hepatocyte necrosis, multinucleated giant cell formation, bile duct proliferation, fiber tissues proliferation and inflammatory cells infiltration in liver lobules and portal regions. The characteristics of cholestasis including intralobular cholestasis, acinus formation, feather-like cytoplasmic filaments and bile stasis in bile canaliculi were observed. The morphologic changes of biliary atresia were observed in 7 cases whose image investigations showed no obstruction of biliary tract. Nuclear changes, resolution of cytoplasm, inflammatory cell infiltration, collagen fiber proliferation and increased number of lysosomes were observed under electromicroscope. Two cases of glycogen storage disease, 1 case of Niemann-Pick disease and 1 case of lipid storage disease with unknown cause were confirmed by the combination of histological changes and clinical manifestations. Conclusion Common pathologic changes of liver tissues existed under light microscope or electroscope. The diagnosis of hereditary metabolic disorders could be made increasingly by application of these two technologies in clinical practice. It is difficult to diagnose biliary atresia in early childhood by image investigations and the pathological changes of liver tissues are helpful.