Starosta Rodrigo Tzovenos, Siebert Marina, Vairo Filippo Pinto E, Costa Bruno Lafaiete de Lima, Ponzoni Christiano Tomaso, Schwartz Ida Vanessa Doederlein, Cerski Carlos Thadeu Schmidt
Universidade Federal do Rio Grande do Sul, Graduate Program in Genetics and Molecular Biology, Porto Alegre, RS, Brasil.
Washington University, Department of Pediatrics, Saint Louis, MO, USA.
Autops Case Rep. 2021 Aug 20;11:e2021306. doi: 10.4322/acr.2021.306. eCollection 2021.
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a disturbance in the metabolism of glucocerebroside in the macrophages. Most of its manifestations - hepatosplenomegaly, anemia, thrombocytopenia, and bone pain - are amenable to a macrophage-target therapy such as enzyme replacement. However, there is increasing evidence that abnormalities of the liver persist despite the specific GD treatment. In this work, we adapted histomorphometry techniques to the study of hepatocytes in GD using liver tissue of treated patients, developing the first morphometrical method for canalicular quantification in immunohistochemistry-stained liver biopsies, and exploring histomorphometric characteristics of GD. This is the first histomorphometric technique developed for canalicular analysis on histological liver biopsy samples.
戈谢病（GD）是一种常染色体隐性溶酶体疾病，由巨噬细胞中葡萄糖脑苷脂代谢紊乱引起。其大多数表现——肝脾肿大、贫血、血小板减少和骨痛——都适合采用诸如酶替代等巨噬细胞靶向治疗。然而，越来越多的证据表明，尽管进行了特异性GD治疗，肝脏异常仍然存在。在这项研究中，我们将组织形态计量学技术应用于GD患者肝细胞的研究，使用接受治疗患者的肝脏组织，开发了免疫组织化学染色肝活检中胆管定量的首个形态计量学方法，并探索了GD的组织形态计量学特征。这是首个针对肝脏组织活检样本进行胆管分析而开发的组织形态计量学技术。
