James S P, Stromeyer F W, Chang C, Barranger J A
Gastroenterology. 1981 Jan;80(1):126-33.
Clinical and liver histopathological observations are described in 25 patients with Gaucher's disease. Although 24 patients had hepatomegaly, and the majority had abnormalities of serum transaminases, alkaline phosphatase, and BSP clearance, only 3 had evidence of portal hypertension and complications of advanced liver disease. Liver biopsies showed scattered foci of Gaucher cells in 5 patients and prominent centrilobular accumulation of Gaucher cells in 14 patients. Three patients had cirrhosis, which was associated with extensive replacement of the liver by storage cells. The severity of liver abnormalities correlated with the occurrence of other severe complications of Gaucher's disease. The wide spectrum of liver abnormalities in Gaucher's disease should be considered in evaluating trials of therapeutic enzyme replacement.
对25例戈谢病患者的临床及肝脏组织病理学观察进行了描述。尽管24例患者有肝肿大，且大多数患者血清转氨酶、碱性磷酸酶及磺溴酞钠清除率异常，但仅有3例有门静脉高压及晚期肝病并发症的证据。肝活检显示，5例患者有散在的戈谢细胞灶，14例患者有明显的中央小叶戈谢细胞聚集。3例患者有肝硬化，这与贮积细胞广泛取代肝脏有关。肝脏异常的严重程度与戈谢病其他严重并发症的发生相关。在评估治疗性酶替代试验时，应考虑戈谢病肝脏异常的广泛范围。
