Ferrazza P, Assenza M, Diomedi Camassei F, Lombardi A, Di Paola M
Istituto di IV Clinica Chirurgica, Cattedra di Chirurgia Generale, Università degli Studi La Sapienza, Roma.
G Chir. 1997 Apr;18(4):209-11.
Gaucher's disease is a rare metabolic disorder characterized by the lack of beta-glucocerebrosidase enzyme. In this case report a 26-year-old male patient was, first diagnosed as having splenomegaly and a huge haemangioma, therefore managed by total splenectomy. Histologic examination and specific colouring techniques using PAS and Black Sudan dyes allowed the diagnosis of Gaucher's disease. Preoperative diagnosis is hence fundamental to establish the correct management procedure, which currently may be surgical or medical and/or combined. In fact, following the diagnosis the second step includes the decision-making about splenectomy. Other therapeutic approaches are enzyme replacement therapy and genic therapy. The first may be combined to partial splenectomy, while the latter still needs further evaluations.
戈谢病是一种罕见的代谢紊乱疾病,其特征是缺乏β-葡萄糖脑苷脂酶。在本病例报告中,一名26岁男性患者最初被诊断为脾肿大和巨大血管瘤,因此接受了全脾切除术。组织学检查以及使用过碘酸雪夫染色法(PAS)和苏丹黑染料的特殊染色技术确诊为戈谢病。因此,术前诊断对于确立正确的治疗程序至关重要,目前的治疗程序可以是手术治疗、药物治疗和/或联合治疗。事实上,确诊后的第二步包括决定是否进行脾切除术。其他治疗方法包括酶替代疗法和基因疗法。前者可与部分脾切除术联合使用,而后者仍需进一步评估。