Livandovskiĭ Iu A, Kapustina N D, Beĭer E M
Klin Med (Mosk). 1991 Apr;69(4):87-9.
Two cases of Gaucher's disease are described. The diagnosis was based on clinical appearance, observation of the typical cells in the sternal and splenic puncture biopsies. Leucocytic beta-glucocerebrosidase activity was found inhibited in contrast to normal activity of the other lysosomal glycosidases. A female of 51 developed significant changes in the bones, progressive enlargement of the liver, chronic calculous cholecystitis 36 years after splenectomy. Current aspects of pathogenesis, clinical symptoms, diagnosis and treatment of Gaucher's disease are reviewed.
本文描述了两例戈谢病病例。诊断基于临床表现以及胸骨和脾脏穿刺活检中典型细胞的观察。与其他溶酶体糖苷酶的正常活性相比,发现白细胞β-葡萄糖脑苷脂酶活性受到抑制。一名51岁女性在脾切除术后36年出现了骨骼的显著变化、肝脏进行性肿大以及慢性结石性胆囊炎。本文对戈谢病的发病机制、临床症状、诊断和治疗的当前方面进行了综述。