Gaucher病累及肝脏的临床与病理学分析

Clinical and pathological features of liver tissues of patients with Gaucher's disease

目的探讨肝脏Gaucher病的临床病理特点。方法对3例肝脏Gaucher病患者的临床资料进行分析,并行组织病理学观察及免疫组化双标记染色。结果 3例患者经肝穿诊断为Gaucher病,女性2例,男性1例,发病年龄分别为11、19、23岁,平均17.6岁;病程1～7年,幼年时体质均较弱,临床以贫血、血小板减少以及肝、脾肿大,门静脉高压症或肝窦阻塞综合征为首发症状。镜下见在肝小叶内肝窦区域性扩张,其内见体积明显增大的成群的Gaucher细胞,多分布在中央区周围肝窦及部分汇管区内,胞质呈纤维状或环形波纹。免疫组化CD68染色强阳性,CD68与Hepa双染色显示Gaucher细胞更明显。肝细胞弥漫性水样变性、灶性炎及窦周炎不明显,其中1例汇管区明显扩大,增生的纤维组织较陈旧且致密,并致小叶结构紊乱,假小叶形成。结论本组病例发病年龄较小,可出现早期肝硬化改变,临床表现缺乏特征性,临床确诊率低,肝穿检查对本病的确诊意义重大。

Objective To study the clinical and pathological characteristics of Gaucher’s disease.Methods The clinical data of three patients with Gaucher’s disease were analyzed.The pathological morphology of Gaucher’s disease was observed under microscopy and double immunohistochemical staining was performed.Results All the 3 cases of Gaucher’s disease（including two females and one male） were diagnosed by liver biopsy.Their age of onset was 11,19 and 23 years old,respectively,with an average of 17.6 years old.The duration was 1-7 years.All the 3 patients were weak when they were young.The early symptoms of disease were anaemia,decreased blood platelet,hepatosplenomegaly,and portal hypertension or sinusoidal obstruction syndrome.Histologically,clusters of Gaucher cells with augmented volume were observed in expanded hepatic sinusoid of peripheral central veins and the cytoplasm of Gaucher cells were fibriform or crinkled.Immunohistochemistry revealed strongly positive expression of CD68 in liver tissue of the 3 cases,which was further demonstrated by double staining of CD68 and Hepa.No obvious diffuse hydropic degeneration of hepatocytes,focal inflammation or sinus inflammation was found.One case of Gaucher’s disease showed significant enlargement of portal area.The proliferative fibrous tissue was old and compact,which resulted in distortion of lobules and the formation of pseudolobule.Conclusions The 3 cases involved in present study show an earlier age of onset.They may have early changes of cirrhosis but the percentage of correct diagnosis is very low for the clinical characteristics lacked.Liver biopsy plays a very important role in the diagnosis of Gaucher’s disease.