中华病理学杂志
中華病理學雜誌
중화병이학잡지
Chinese Journal of Pathology
2012年
7期
452-455
,共4页
先天性遗传性新生儿疾病和畸形%肝疾病%胆汁淤积,肝内
先天性遺傳性新生兒疾病和畸形%肝疾病%膽汁淤積,肝內
선천성유전성신생인질병화기형%간질병%담즙어적,간내
Congenital%hereditary%and neonatal diseases and abnormalities%Liver diseases%Cholestasis%intrahepatic
目的 通过观察新生儿citrin缺陷肝内胆汁淤积症(NICCD)的肝穿刺活检病理标本,探讨肝病变的组织学特点及其诊断价值.方法 对10例NICCD患儿的肝穿刺标本进行HE、组织化学和免疫组织化学(EnVision法)等染色,应用聚合酶链反应(PCR)和PCR-限制性片段长度多态性方法常规筛查SLC25A13的2个等位基因的突变情况以确切诊断,在光镜下观察肝脏病变的特征.结果 10例NICCD均经基因检测予以确诊.乙型肝炎表面抗原、乙型肝炎核心抗原、PAS-D和铜的免疫组织化学与组织化学染色均为阴性.NICCD肝脏的主要病理组织学改变有大泡和微泡混合型肝细胞内脂肪沉积、坏死性炎性病变、胆汁淤积、胆栓形成和肝纤维化等并存而组成四联图像.其中,肝纤维化随病程的发展而加重,可最终导致肝硬化.结论 肝穿刺活检对NICCD的临床诊断应依据四联图像,尤以大泡和微泡混合型肝细胞内脂肪沉积为特点,与伴有脂肪性肝炎病理改变的其他各种肝病鉴别;提示应进行基因检测以确诊NICCD;可根据炎性反应和纤维化的发展趋势推测NICCD的预后.
目的 通過觀察新生兒citrin缺陷肝內膽汁淤積癥(NICCD)的肝穿刺活檢病理標本,探討肝病變的組織學特點及其診斷價值.方法 對10例NICCD患兒的肝穿刺標本進行HE、組織化學和免疫組織化學(EnVision法)等染色,應用聚閤酶鏈反應(PCR)和PCR-限製性片段長度多態性方法常規篩查SLC25A13的2箇等位基因的突變情況以確切診斷,在光鏡下觀察肝髒病變的特徵.結果 10例NICCD均經基因檢測予以確診.乙型肝炎錶麵抗原、乙型肝炎覈心抗原、PAS-D和銅的免疫組織化學與組織化學染色均為陰性.NICCD肝髒的主要病理組織學改變有大泡和微泡混閤型肝細胞內脂肪沉積、壞死性炎性病變、膽汁淤積、膽栓形成和肝纖維化等併存而組成四聯圖像.其中,肝纖維化隨病程的髮展而加重,可最終導緻肝硬化.結論 肝穿刺活檢對NICCD的臨床診斷應依據四聯圖像,尤以大泡和微泡混閤型肝細胞內脂肪沉積為特點,與伴有脂肪性肝炎病理改變的其他各種肝病鑒彆;提示應進行基因檢測以確診NICCD;可根據炎性反應和纖維化的髮展趨勢推測NICCD的預後.
목적 통과관찰신생인citrin결함간내담즙어적증(NICCD)적간천자활검병리표본,탐토간병변적조직학특점급기진단개치.방법 대10례NICCD환인적간천자표본진행HE、조직화학화면역조직화학(EnVision법)등염색,응용취합매련반응(PCR)화PCR-한제성편단장도다태성방법상규사사SLC25A13적2개등위기인적돌변정황이학절진단,재광경하관찰간장병변적특정.결과 10례NICCD균경기인검측여이학진.을형간염표면항원、을형간염핵심항원、PAS-D화동적면역조직화학여조직화학염색균위음성.NICCD간장적주요병리조직학개변유대포화미포혼합형간세포내지방침적、배사성염성병변、담즙어적、담전형성화간섬유화등병존이조성사련도상.기중,간섬유화수병정적발전이가중,가최종도치간경화.결론 간천자활검대NICCD적림상진단응의거사련도상,우이대포화미포혼합형간세포내지방침적위특점,여반유지방성간염병리개변적기타각충간병감별;제시응진행기인검측이학진NICCD;가근거염성반응화섬유화적발전추세추측NICCD적예후.
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.
